ARTICLE IN PRESS

CASE REPORT

Inheritance of pericentric inversion in chromosome

7 through the three progenies and a newborn
with congenital hydronephrosis diagnosed
prenatally by fetal urine sampling
€
Osman Demirhan, Ph.D.,a Kenan Ozcan, M.D.,b Deniz Tasxtemir, M.Sc.,a Cansun Demir, M.D.,c
a
Erdal Tunç, M.Sc., H€
useyin A. Sol _
gun, M.D.,d and Ali Irfan uzel, Ph.D.a
G€
a
Department of Medical Biology and Genetics, b Department of Neonatology, c Department of Gynecology and Obstetrics,
and d Department of Pediatry, Faculty of Medicine, Çukurova University, Adana, Turkey

Objective: To report the inheritance of a pericentric inversion in chromosome 7 through the three progenies,
congenital hydronephrosis, and recurrent miscarriages in an extended family.
Design: Case report.
Setting: Medical Faculty of Cukurova University in Turkey.
Patient(s): Referred by obstetrics and gynecology clinic.
Intervention(s): Fetal urine and lymphocytic karyotype.
Main Outcome Measure(s): Chromosomal analysis from fetal urine and peripheral blood lymphocytes were
performed according to standard cytogenetic methods.
Result(s): We assessed an extended family in which a large pericentric inversion in chromosome 7 is segregating;
one of the three progenies with the karyotype 46,XY,inv(7)(p22;q22) was heterozygote for the inversion and pre-
sented with congenital hydronephrosis. His mother, mother’s brother, grandfather, grandfather’s brother, and his
daughter were similar for the inversion.
Conclusion(s): This case describes the further molecular characterization of these breakpoints on the short or long
arm of chromosome 7(p22-q22). The inv(7) is also associated with fetal wastage and may be playing a role in the
etiology of the family’s miscarriages. These findings can be used in clinical genetics and may be an effective tool
for reproductive guidance and genetic counseling. (Fertil Steril 2007;-:-–-. 2007 by American Society for
Reproductive Medicine.)
Key Words: Congenital hydronephrosis, recurrent miscarriages, fetal urine, cytogenetic diagnosis, pericentric
inversion 7

Inversions are among the least frequent chromosomal rear-
rangements in newborns, with an incidence of 0.012%.
This is the lowest incidence among the four types of chromo-
somal abnormalities. Theoretically, there are three possible
types of gametes: one with normal balanced inversion, one
with a duplication of the inverted long-arm material and a de-
letion of the short-arm chromatin, and one with duplication of
the short-arm material and a deletion of the long-arm chro-
matin (1). Gametes with the unbalanced inversion may cause
spontaneous fetal death and malformed offspring. Many dif-
ferent pericentric inversions (a chromosomal defect in which
a segment of the chromosome including the centromere
breaks off and reattaches in the reverse direction) have
Received September 1, 2006; revised and accepted February 9, 2007.
 kur, Emekli Sandıg
Supported by health societies (SSK, Bag  ı).
Reprint requests: Osman Demirhan, Ph.D., Department of Medical Biol-
ogy and Genetics, Faculty of Medicine, University of Cukurova, 01330
Adana, Balcali, Turkey (FAX: 90-322-338-65-72; E-mail: osdemir@cu.
edu.tr).
been reported; some were ascertained because of abnormal
recombinant children and others exhibited generations of
only balanced and normal offspring (2). Empiric studies
have suggested that a carrier of a pericentric inversion can
have a liveborn child with abnormal chromosomes. Overall,
the risk of a carrier with a pericentric inversion producing
a child with an unbalanced karyotype is 1%–10% (3). Famil-
ial rearrangements involving chromosome 7 have been
reported infrequently. The majority of children with unbal-
anced karyotypes from such families have small deletions
of the distal portion of 7q or duplications of distal 7p. Loss
of heterozygosity studies have implicated 7q22 in uterine
leiomyoma (4–6).
We observed a family with a pericentric inversion in chro-
mosome 7[inv(7)(p22;q22)] for three generations with only
one liveborn infant with congenital hydronephrosis, which
resulted from a maternal inversion; in addition, there were
two previous consecutive early abortions and five healthy
individuals. Congenital hydronephrosis, one of the most

0015-0282/07/$32.00 Fertility and Sterility Vol. -, No. -, - 2007 1.e1

doi:10.1016/j.fertnstert.2007.02.030 Copyright ª2007 American Society for Reproductive Medicine, Published by Elsevier Inc.
 ARTICLE IN PRESS
common problems confronting pediatric urologists, is a com-
mon congenital urinary anomaly in children. The pathogene-
sis of renal obstruction has not been fully elucidated.
Hereditary hydronephrosis shows as an autosomal dominant
trait and causes unilateral or bilateral pelvi-ureteric junction
obstruction (7). Spontaneous abortion is also a common clin-
ical problem. Previous reports exhibit that sporadic abortions
may be caused by chromosomal abnormalities of %60% at
the first trimester (8). These abnormalities are also associated
with fetal malformations and mental retardation. The bal-
anced carriers are healthy, but they have an increased risk
for having offspring with unbalanced carrier permutation,
which leads to a high rate of repetition of spontaneous abor-
tions (9). The distal breakpoint lies within the suspected crit-
ical region on chromosome 7. This region may contain a gene
that is important in governing renal cell proliferation during
fetal life. This condition should also increase suspicion for
underlying genital and chromosomal anomalies.
CASE REPORT
A 27-year-old woman with a history of recurrent miscar-
riages and a polycystic kidney suggestion as a result of ultra-
sonographic scan at 27 weeks of gestation was referred by the
department of obstetrics and gynecology in our faculty of
medicine (Çukurova University) to our genetics laboratory
for prenatal diagnosis. The woman and her husband (29 y
old) were healthy and phenotypically normal. They were
not consanguineous, and there was family history of congen-
ital anomalies and of the mother’s recurrent abortions (Fig.
1). The grandmother had been pregnant six times, and four
of those resulted in abortions in the first trimester of the preg-
nancies (Fig. 1). The mother had been pregnant three times,
and two of those resulted in abortions in the first trimester
of the pregnancies. During her last pregnancy, a fetus with an
active and polycystic kidney was revealed with the aid of a
FIGURE 1
Pedigree of the family.
Demirhan. Inheritance of pericentric inversion in chromosome 7. Fertil Steril 2007.
1.e2 Demirhan et al. Inheritance of pericentric inversion in chromosome 7
level 3 ultrasound. At 27 weeks of gestation, 10 mL of fetal
urine was obtained transabdominally for cytogenetic analysis.
The baby was the first living child of the couple. He was
born after a normal vaginal delivery at 33 weeks of gestation;
Apgar scores were 9 and 10, respectively, at the 1st and 5th
minutes. Because of grunting and irregular respiration, he
was hospitalized in a neonatal intensive care unit. After birth,
physical examination of the baby indicated the following re-
sults: birth weight, 2,440 g; body length, 50 cm (75%–90%);
head circumference, 34 cm (75%–90%); heart rate, 162 beats
per minute; temperature, 36.2 C; respiratory rate, 68 breaths
per minute; and blood pressure, 53/21 mm Hg. He was mod-
erately ill, grunting, and had tachypnea. Front fontanel was 1
 1cm. Trachea was at middle line, with no rales or rhonchi
on auscultation. The cardiovascular system was normal on
physical examination, and there were no murmurs. The liver
was palpable to 1 cm, and the spleen was nonpalpable. The
genitourinary system was suitable for a prepubertal male
child, and extremities were normal (Fig. 2). Blood groups
of the baby, mother, and father were AB Rh(þ), B Rh(þ),
and A Rh(þ), respectively. Whole blood count examinations
demonstrated the following: hemoglobin, 17.3 g/dL; hemat-
ocrit, 51.5%; white blood cell count, 14,800 per mm3; and
thrombocyte count, 214,000 per mm3. Peripheral blood smear
was normal. Biochemistry findings included the following:
glucose, 73 g/dL; blood urea nitrogen, 40 mg/dL; creatinine,
1.6 mg/dL; total bilirubin, 18.6 mg/dL; direct bilirubin, 0.5
mg/dL; aspartate aminotransferase (AST), 48 IU/L; alanine
aminotransferase (ALT), 12 IU/L; total calcium (TCa), 9
mg/dL; free thyroxine, 0.83 ng/dL; and thyroid-stimulating
hormone, 4.55 mIU/L. Cranial ultrasonography was normal.
Abdominal ultrasonography findings were as follows: the di-
ameter of the right kidney was about 74  35 mm, and the
parenchyma was normal in thickness. The pelvis was mini-
mally dilated. There was a cystic lesion in the left kidney
Vol. -, No. -, - 2007
 ARTICLE IN PRESS
FIGURE 2
Gross appearance of the proband.
Demirhan. Inheritance of pericentric inversion in chromosome 7. Fertil Steril 2007.
that had a diameter of 38 mm and 2 mm. A thick parenchyma
was also observed around this cystic lesion. The ureter was
not dilated. There was minimal pelviectasis in the right kid-
ney. The left cystic kidney was without parenchyma.
The baby was hospitalized because of prematurity and re-
spiratory difficulties. Polycystic renal disease was suspected
(from prenatal ultrasonography). Renal ultrasonography
demonstrated hydronephrosis. Right and left anteroposterior
pelvic diameter were 13.5 mm and 27.3  14.2 mm, respec-
tively (Fig. 3). Consultation with pediatric nephrology was
performed on the baby’s case. To rule out vesicoureteral reflux
and a posterior urethral valve, voiding cystourethrography
was planned. Creatinine levels were 1.5 and 1.6 mg/dL. The
patient was treated with ampicillin and amicasine for 7 days
because of infection risk factors of the mother. Then amoxicil-
lin was started at a suppressor dose. Renal scintigraphy was
planned when the patient was 1 year old, and dimercaptosus-
sinic acid (DMSA) and diethylene-triaminepentaacetic acid
(DTPA) were within normal limits. The patient is now 15
Fertility and Sterility
FIGURE 3
Ultrasonography demonstrating a coronal view of
the proband back, showing marked hydronephrosis
of the left kidney.
Demirhan. Inheritance of pericentric inversion in chromosome 7. Fertil Steril 2007.
months of age and in follow-up with both neonatology and pe-
diatric nephrology outpatient clinics. Renal ultrasonography
of the mother, mother’s brother, grandfather, and grandmother
demonstrated kidneys with normal structure.
MATERIALS AND METHODS
Karyotype of the fetus was performed on fetal cells that were
obtained from the fetal urine sample by using long-term cell
culture. After adequate growth, cultures were harvested in
situ after an average 8- to 10-day period. Karyotyping was
routinely performed by G-banding by using the trypsin-
Giemsa staining technique. At least 20 metaphases were an-
alyzed. Chromosome analysis confirmed that all cells had
pericentric inversion of 7[46,XY,inv(7)(p22;q22)mat] (Fig.
4A). The breakpoints were on region 22 of the short arm
and on region 22 of the long arm of a chromosome 7 (Fig.
4B). This type of inversion is not known to be associated
with any clinical effect. Therefore, the pregnancy was contin-
ued to term without any complications. After birth, the result
of the newborn infant’s karyotype also confirmed an appar-
ently identical pericentric inversion of chromosome 7. Other-
wise, the offspring was normal on physical examination.
The family pedigree includes the proband (IV-12) and his
extended family (Fig. 1). To confirm the reported chromo-
some anomaly, parents (III-21,22), mother’s brother (III-23),
grandmother (II-14), and grandfather’s (II-13) chromosomal
analyses were performed on routinely cultured peripheral
blood lymphocytes. Slides were processed for trypsin–
Giemsa banding. Twenty metaphases were microscopically
analyzed for each case. A normal chromosome complement
was found for father (46,XY) and grandmother (46,XX).
However, rearrangement involving chromosome 7;46,XX/XY,
1.e3
 ARTICLE IN PRESS
FIGURE 4
Karyotype of the proband and the other family members (A), as well as ideogram and G-banded images showing
normal chromosome and inversion in chromosome 7 (B).
Demirhan. Inheritance of pericentric inversion in chromosome 7. Fertil Steril 2007.
inv(7)(p22;q22) were found in the karyotypes of the mother,
mother’s brother, grandfather, grandfather’s brother, and his
daughter (Fig. 4A and B). This showed that the pericentric in-
version of the fetus was derived from chromosome 7 of the
mother, which was also derived from her father.
Chromosomal analyses also were performed for the grand-
father’s sister (II-2) and brother (II-7), for his daughter (III-
16), and for the husband (II-8). The grandfather’s sister,
who had two spontaneous abortions, had a normal karyotype,
but the grandfather’s brother, whose wife had one spontane-
ous abortion, and his daughter (III-16) had the pericentric
inversion (Fig. 1).
DISCUSSION
Carriers of large pericentric inversions are at risk for meiotic
recombination within the inverted segment, resulting in du-
plication or deletion of chromosomes in the gametes (2). In-
versions are among the least frequent chromosome
rearrangements in the newborn, with an incidence of
0.012% (1). Among the pericentric inversions, those of chro-
mosome 7 are not frequent in males (4.3%–6.2% of all peri-
centric inversion) (10, 11). The unbalanced inversion in
gametes may cause spontaneous fetal death and malformed
offspring. In our study, spontaneous abortions of individuals
with inversion in chromosome 7 could be related to the unbal-
anced inversion in gametes. Liveborn individuals with rear-
ranged chromosomes have been reported in offspring of an
inv(7) carrier. Overall, the risk that a carrier of a pericentric
inversion will produce a child with an unbalanced karyotype
is 1%–10% (3). Here, we presented a segregation of a bal-
anced inversion in chromosome 7 [inv(7)(p22;q22)] of a phe-
notypically normal mother that led to one offspring with
a viable balance and two abortions with unbalanced outcome.
The inversion was present also in her brother, father, and un-
1.e4 Demirhan et al. Inheritance of pericentric inversion in chromosome 7
cle. It has been reported that abortions mostly are caused by
balanced translocations (9). Theoretically, this inversion in-
volves <1% of the haploid autosomal length, and therefore
a fetus with either a duplication or deletion is likely to be vi-
able unless essential genes in this segment are present that are
deleterious in an aneuploid conceptus. A phenotypically nor-
mal mother and her child with hydronephrosis, mother’s
brother, grandfather, grandfather’s brother, and his daughter
were shown to have the inversion in chromosome 7 (Fig.
1). Here we presented balanced and unbalanced rearrange-
ments of chromosome 7 in conceptuses of a phenotypically
normal mother, mother’s brother, grandfather, grandfather’s
brother, and his daughter.
As we have reported in this article, the proband, the third
pregnancy of the family, is phenotypically normal but has
a balanced inversion involving chromosome 7. This rear-
rangement was performed in the heterozygous state and
was apparently harmonized with the mother’s. This type of
inversion is not known to be associated with any clinical ef-
fect because there is no genetic material lost. At the same
time, the balanced carrier offspring are complementary mei-
otic products that usually lead to a normal phenotype (12).
Therefore, this situation can be accepted as a normal variant,
harmless or asymptomatic. However, the prenatal and postna-
tal karyotypes of the newborn infant were the same as the
mother’s [46,XY,inv(7)(p22;q22)], and he was not healthy
(noted hydronephrosis). If the chromosome behaves normally
during the meiotic divisions, half of the gametes receive a nor-
mal chromosome, and the other half, a chromosome with the
duplication (13). These showed that the offspring receive the
gamete that has the inversion from the mother.
Antenatal diagnosis of a solitary kidney of the proband
was performed at 27 weeks’ gestation. This is the first re-
ported case of the association of inversion 7 with congenital
Vol. -, No. -, - 2007
 ARTICLE IN PRESS
hydronephrosis. Complete assessment of the malformation
showed a left hydronephrosis caused by a mega ureter. Con-
genital hydronephrosis is one of the most common problems
confronting pediatric urologists and frequently shown by
prenatal diagnosis, often seen at the second trimester. The
newborn evaluation for hydronephrosis may be time con-
suming, invasive, and costly; however, it can often prevent
sequela from congenital uropathy. Hydronephrosis may be
defined as an abnormal dilation of the renal pelvis and/or
calyces, accompanied afterward by changes in the renal pa-
renchyma. Renal function of the unique kidney with hydro-
nephrosis can be diagnosed early and promptly treated.
When hydronephrosis is diagnosed prenatally, it is called
fetal hydronephrosis. A strong correlation has been estab-
lished between prenatally detected hydronephrosis and post-
natal genitourinary pathology, but this correlation is not
perfect (14). Hydronephrosis also has an association with an-
euploidy and is a component of several well-described syn-
dromes. Clinically, interstitial fibrosis and renal atrophy are
common outcomes of long-term urethral obstruction.
Recently, growth factors such as transforming growth fac-
tor-b and epidermal growth factor have been reported to
play a role in the development and progression of fibrotic
and sclerotic changes in the obstructed kidney (15). It has
been suggested that the epithelial-to-mesenchymal transition
is a major factor leading to renal fibrosis at congenital hydro-
nephrosis in children. The kidney is a major site of production
of epidermal growth factor (16). Epidermal growth factor ap-
pears to have several important functions in the modulation of
renal growth, glomerular hemodynamics, renal metabolism,
tubular transport, and eicosanoid synthesis (17). Furthermore,
epidermal growth factor appears to govern renal cell prolifer-
ation during fetal life (18). Documentation of unique kidney
renal function early in pregnancy can be helpful in defining
prenatal management and therefore in improving prognosis.
Live-born individuals with rearranged chromosomes have
been reported in five offspring of carriers of an inv(7) (19,
20). Two of these were duplicated for a short-arm segment
(21, 22). Cytogenetic analyses and molecular loss of hetero-
zygosity studies suggest that chromosome band 7q22 is a crit-
ical region that is associated with 7q malignant myeloid
disorders (23–25). In a reported case (26), the mother had
a balanced inversion of chromosome 7[inv(7)(q11;q22)],
and her daughter inherited the inversion but with a tiny dupli-
cation of 7q11.22–q11.23. This was suggested to have origi-
nated with unequal crossing over outside the inversion loop
during meiosis in the mother. There is no cytogenetic
evidence for either duplication or deletion in the cases, but
a submicroscopic aberration cannot be excluded. Although
the linkage analysis study of Izquierdo et al. (7) suggested
that one of the loci for hereditary hydronephrosis is on chro-
mosome 6p, according to our preliminary cytogenetic study,
we propose that other hydronephrosis-related genes may be
located at the 7p22–q22 loci.
Increased reproductive failure may result from the selec-
tive disadvantage of aneusomic gametes at fertilization or
Fertility and Sterility
very early spontaneous abortions of unbalanced conceptuses.
The pericentric inversions are associated with fetal wastage
and may play a role in the etiology of the other miscarriages
of the family, because the absence of evidence of recombina-
tion in inverted chromosomes could be related to the location,
within the duplicated/deleted regions, of dosage-sensitive
loci that affect the viability of an embryo when they are pres-
ent in an unbalanced state. Sherman et al. (11) reviewed 216
pedigrees with pericentric inversions and found the recur-
rence risk to be 6.9%. Daniel et al. (27) suggested a 10%–
15% risk for carriers with short segments of chromosomal
material distal to the ends of the inversion. In our study, a phe-
notypically normal mother and grandmother with a history of
multiple miscarriages could also be related to the pericentric
inversion of chromosome 7, which may be the reason for the
previous consecutive early abortions. Perhaps the large size
of the inversion in this family, with predisposition to very
short duplicated and/or deleted segments in the affected chil-
dren, led to a high survival rate for these individuals. Pro-
band’s mother was counseled for the prenatal diagnosis in
the next pregnancy. Theoretically, for a carrier of a pericentric
inversion, the risk of producing a child with an unbalanced
karyotype is 1%–10% (3). The detection of couples with
chromosomal anomalies can undoubtedly help to prevent
the births of malformed infants.
In conclusion, our findings suggest heterogeneity for the
breakpoint in bands 7p22 and 7q22. Furthermore, molecu-
lar studies may help to find genes in the 7p–q critical re-
gions that are involved in the pathogenesis and lead to
the identification of the disease. However, for couples
with any known chromosomal rearrangements, prenatal di-
agnosis is essential if a viable offspring with an abnormal
clinical outcome is likely. It is also recommended that
cases of clinically normal individuals with unbalanced kar-
yotypes be published, so that an informed decision can be
made by parents prenatally when a similar rearrangement is
identified. Studies with more cases may help to delineate
the inv(7)(p22;q22) phenotype.
REFERENCES
1. Jiang J, Fu M, Wang D. Cytogenetic analysis in 61 couples with sponta-
neous abortions. Chin Med J 2001;114:200–1.
2. Kaiser P. Pericentric inversion: problems and significance for clinical ge-
netics. Hum Genet 1984;68:1–47.
3. Gardner RJM, Sutherland GR. Chromosome abnormalities and genetic
counseling. New York: Oxford University Press, 1989.
4. Winsor EJT, Palmer CG, Ellis PM, Hunter JLP, Ferguson-Smith MA.
Meiotic analysis of a pericentric inversion, inv(7)(p22q32), in the father
of a child with a duplication-deletion of chromosome 7. Cytogenet Cell
Genet 1978;20:169–84.
5. Ishwad CS, Ferrell RE, Hanley K, Davare J, Meloni AM, Sandberg AA,
et al. Two discrete regions of deletion at 7q in uterine leiomyomas. Genes
Chromosomes Cancer 1997;19:156–60.
6. Zeng WR, Scherer SW, Koutsilieris M, Huizenga JJ, Filteau F, Tsui L-C,
et al. Loss of heterozygosity and reduced expression of the CUTL1 gene
in uterine leiomyomas. Oncogene 1997;14:2355–65.
7. Izquierdo L, Porteous M, Paramo PG, Connor JM. Evidence for genetic
heterogeneity in hereditary hydronephrosis caused by pelvi-ureteric
1.e5
 ARTICLE IN PRESS
junction obstruction, with one locus assigned to chromosome 6p. Hum
Genet 1992;89:557–60.
8. Stein Z. Early fetal loss. Birth Defects 1981;17:95–9.
9. Sanchez JM, Franzi L, Collia F, De Diaz SL, Panal M, Dubner M. Cyto-
genetic study of spontaneous abortions by transabdominal villus sam-
pling and direct analysis of villi. Prenat Diagn 1999;19:601–3.
10. De Braekeleer M, Dao T-N. Cytogenetic studies in male infertility: a re-
view. Hum Reprod 1991;6:245–50.
11. Sherman SL, Iselius L, Gallano P, Buckton K, Collyer S, DeMey U, et al.
Segregation analysis of balanced pericentric inversion in pedigree data.
Clin Genet 1986;30:87–94.
12. Mille OJ, Thermar E. Human chromosomes. New York: Springer-Verlag
Press, 2001.
13. Appels R, Morris R, Gill BS, May CE. Chromosome biology. Boston:
Kluwer Academic, 1998.
14. Pates JA, Dashe JS. Prenatal diagnosis and management of hydronephro-
sis. Early Hum Dev 2006;82:3–8.
15. Yang Y, Hou Y, Wang C-L, Ji S-J. Renal expression of epidermal growth
factor and transforming growth factor-beta1 in children with congenital
hydronephrosis. Urology 2006;67:817–22.
16. Fisher DA, Salido EC, Barajas L. Epidermal growth factor and the kid-
ney. Annu Rev Physiol 1989;51:67–80.
17. Harris RC. Potential physiologic roles for epidermal growth factor in the
kidney. Am J Kidney Dis 1991;17:627–30.
18. Goodyer PR, Mulligan L, Goodyer CG. Expression of growth-related
genes in human fetal kidney. Am J Kidney Dis 1991;17:608–10.
19. Ishii F, Fujita H, Nagai A, Ogihara T, Kim H-S, Okamoto R, et al. Case
report of rec(7)dup(7q)inv(7)(p22q22) and a review of the recombinants
resulting from parental pericentric inversions on any chromosomes. Am
J Med Genet 1997;73:290–5.
20. Goodman BK, Stone K, Coddett JM, Cargile CB, Gurewitsch ED,
Blackemore KJ, et al. Molecular cytogenetic analysis and clinical findings
in a newborn with prenatally diagnosed rec(7)dup(7)inv(7)(p22q31.3)pat.
Prenat Diagn 1999;19:1150–6.
21. Delicado A, Escribano E, Lopez PI, Diaz de Bustamante A, Carrasco S.
A malformed child with a recombinant chromosome 7, rec(7)dup p, de-
rived from a maternal pericentric inversion inv(7)(p15q36). J Med Genet
1991;28:126–7.
22. Ramer JC, Mowrey PN, Lada RL. Malformations in a child with dup
(7pter-p15.1) and del(7q36-ter) as a result of familial pericentric
inversion. Clin Genet 1991;39:442–50.
23. Johnson EJ, Scherer SW, Osborne L, Tsui LC, Oscier D, Mould S, et al.
Molecular definition of a narrow interval at 7q22.1 associated with mye-
lodysplasia. Blood 1996;87:3579–86.
24. Stanley WS, Burkett SS, Segel B, Quiery A, George B, Lobel J, et al.
Constitutional inversion of chromosome 7 and hematological cancers.
Cancer Genet Cytogenet 1997;96:46–9.
25. Preiss BS, Hasle H, Sorensen AG, Heil M, Kerndrup GB. A case of child-
hood acute myeloid leukemia associated with inversion (7)(p21q31).
Cancer Genet Cytogenet 1999;108:144–8.
26. Hoo JJ, Lorenz R, Fisher A, Fuhrmann W. Tiny interstitial duplication of
proximal 7q in association with a maternal paracentric inversion. Hum
Genet 1982;62:113–6.
27. Daniel A, Hook EB, Wulf G. Risks of unbalanced progeny at amniocen-
tesis to carriers of chromosome rearrangements: data from United States
and Canadian laboratories. Am J Med Genet 1989;31:14–53.

1.e6 Demirhan et al. Inheritance of pericentric inversion in chromosome 7 Vol. -, No. -, - 2007