Korean J Obstet Gynecol Search


Korean Journal of Obstetrics & Gynecology 2002;45(2):323-326.
Published online February 1, 2002.
A case of de novo ring (13) chromosome with deletion 13q32.2-->qter.
Seong Jin Hwang, Jee Hyun Lee, In Yang Park, Hee Bong Moon, Joon Hwan Oh, Gui Se Ra Lee, Chong Seung Yi, Jong Chul Shin, Soo Pyung Kim
Department of Obstetrics and Gynecology, College of Medicine, Catholic University of Korea, Seoul, Korea.
We report a case of ring chromosome 13 with a distal deletion of 13q32.2-->qter observed in a fetus who was referred to our institution at term due to severe growth restriction and multiple congenital malformations on ultrasonographic examination.This boy was born by vaginal delivery at 39 weeks in gestation. His weight, head circumference and height were less than the 3 percentile of gestational age. Apgar score was 7 at 1 minute and 9 at 5 minutes. He showed microcephaly, large forehead, low set ears, hypertelorism, flat nasal bridge, and micrognathia. The genitalia was ambiguous, showing severe hypoplasia of the penis. The anus was ectopic, displaced anteriorly from its normal position but with a normal opening and function. Neurologic examination was normal. Echocardiogram done at 2 weeks of life showed a persistent foramen ovale and a ventriculoseptal defect (type II) with increased pulmonary hypertension. MRI examination of the brain showed poorly demarcating corpus callosum suspecting agenesis of corpus callosum. Also, cerebellar vermis was small and hypoplastic, mimicking a variant form of Dandy-Walker malformation. MRI of the pelvis showed a tubular structure in pelvic cavity, suspicious of uterine remnant, between urinary bladder and rectum, and a inguinal hernia was noted in the left side. In the abdominal cavity enlarged adrenal glands were noted, and hormonal study showed elevated 17-alpha-OH-progesterone (168.9 ng/ml) with normal 17-KS and 17-OHCS levels. Gastrointestinal and urogenital system were otherwise normal. Cytogenetic analysis of the parents were both normal but the newborn showed 46, XY, r (13), de novo, with deletion points q32.2-->qter. Our findings are in line with previous reports about chromosome 13 deletions, in which loss of the "critical point" leads to major malformations like brain anomalies and ambiguous genitalia.
Key Words: chromosome 13, ring chromosome
Share :
Facebook Twitter Linked In Google+ Line it
qter.', //description: '#케익 #딸기 #삼평동 #카페 #분위기 #소개팅', imageUrl: 'https://www.e-aps.org/image/icon/kakao_img.png', link: { mobileWebUrl: 'https://www.e-aps.org/journal/view.php?number=3535', webUrl: 'https://www.e-aps.org/journal/view.php?number=3535' } } }); } //]]> -->
METRICS Graph View
  • 669 View
  • 10 Download
Related articles in Obstet Gynecol Sci

A case of dysgerminoma in combination with mature solid teratoma.1993 July;36(7)

A Case of Terminal Deletion of Chromosome 13q.2001 October;44(10)

A case of ovarian fibrosarcoma with pregnancy.2006 November;49(11)

Article category

Browse all articles >


Browse all articles >

Editorial Office
4th Floor, 36 Gangnam-daero 132-gil, Gangnam-gu, Seoul 06044, Korea.
Tel: +82-2-2266-7238    Fax: +82-2-3445-2440    E-mail: journal@ogscience.org                

Copyright © 2024 by Korean Society of Obstetrics and Gynecology.

Developed in M2PI

Close layer
prev next