Prenatal ultrasound detection of fetal omphaloccle leading to diagnosis of a subtle unbalanced chromosome translocation: unbalanced chromosome: translocation, der(7) t (7p;9p): case report (to upload)

Objective: Omphalocele is one of the most frequently encountered congenital anomalies during prenatal ultrasound. The heterogenous causes lead to an unpredictable prognosis and made genetic counseling difficult. Efforts to investigate the etiology pay off following uncovering a new chromosome rearra...

Full description

Bibliographic Details
Main Author:	Ismail, Hamizah
Format:	Conference or Workshop Item
Language:	English
Published:	2009
Subjects:	RG Gynecology and obstetrics
Online Access:	http://irep.iium.edu.my/15194/ http://irep.iium.edu.my/15194/1/Prenatal_Ultrasound_Detection.pdf

id	iium-15194
recordtype	eprints
spelling	iium-151942012-03-07T02:40:46Z http://irep.iium.edu.my/15194/ Prenatal ultrasound detection of fetal omphaloccle leading to diagnosis of a subtle unbalanced chromosome translocation: unbalanced chromosome: translocation, der(7) t (7p;9p): case report (to upload) Ismail, Hamizah RG Gynecology and obstetrics Objective: Omphalocele is one of the most frequently encountered congenital anomalies during prenatal ultrasound. The heterogenous causes lead to an unpredictable prognosis and made genetic counseling difficult. Efforts to investigate the etiology pay off following uncovering a new chromosome rearrangement. Design: A 38 year old, G3P1SA1 Taiwanese lady, was expecting her second child. At 17 weeks, prenatal ultrasound discovered an isolated omphalocele. She received amniocentesis, result showed a male kryotype carrying a suspicious tiny terminal deletion at the distal short arm band of one chromosome 7:46,XY,del(7)(p22). FISH (fluorescence in situ hybridization) study using chromose 7p subtelomere probe (Vysis, Inc) confirmed losing a distal 7p signal. Meanwhile, both parents were urged for karyotyping to rule out malsegregation in a translocation heterozygote. The mother has normal chromosomes; the father's chromosomes, however, showed very subtle exchange of material on top of the short arms of one chromosome 7 and one chromosome 9, all very tiny pale stain areas. To further clarify the picture, array CGH (comparative genomic hybridization)-CMDX BAC aCGH CA2500 was ordered using DNA extracted from amniotic fluid back-up culture and the results released: 7p22.3p22.1 (RP11-90P13-RP11936A1)x1, 9p24.3p24.3(RP11-1112G-RP11-635C16)x3. The fetus ended up having a derivative chromose 7, resulting from a paternal reciprocal translocation between 7p and 9p that led to monosomy distal 7p and trisomy distal 9p: 46,XY,der97)t(7p22;9p24)pat. The couple opted for termination of pregnancy. Conclusion: This case demonstrated using molecular techniques, FISH and array CGH, help in dignosing subtle cytogenetic findings that add to the list of structural chromosomal abnormalities related omphalozale 2009 Conference or Workshop Item NonPeerReviewed application/pdf en http://irep.iium.edu.my/15194/1/Prenatal_Ultrasound_Detection.pdf Ismail, Hamizah (2009) Prenatal ultrasound detection of fetal omphaloccle leading to diagnosis of a subtle unbalanced chromosome translocation: unbalanced chromosome: translocation, der(7) t (7p;9p): case report (to upload). In: 12th World Congress of the World Federation of Ultrasound in Medicine and Biology, Sydney Convention and Exhibition Centre, Australia, 28 August to 3 September 2009. (Unpublished)
repository_type	Digital Repository
institution_category	Local University
institution	International Islamic University Malaysia
building	IIUM Repository
collection	Online Access
language	English
topic	RG Gynecology and obstetrics
spellingShingle	RG Gynecology and obstetrics Ismail, Hamizah Prenatal ultrasound detection of fetal omphaloccle leading to diagnosis of a subtle unbalanced chromosome translocation: unbalanced chromosome: translocation, der(7) t (7p;9p): case report (to upload)
description	Objective: Omphalocele is one of the most frequently encountered congenital anomalies during prenatal ultrasound. The heterogenous causes lead to an unpredictable prognosis and made genetic counseling difficult. Efforts to investigate the etiology pay off following uncovering a new chromosome rearrangement. Design: A 38 year old, G3P1SA1 Taiwanese lady, was expecting her second child. At 17 weeks, prenatal ultrasound discovered an isolated omphalocele. She received amniocentesis, result showed a male kryotype carrying a suspicious tiny terminal deletion at the distal short arm band of one chromosome 7:46,XY,del(7)(p22). FISH (fluorescence in situ hybridization) study using chromose 7p subtelomere probe (Vysis, Inc) confirmed losing a distal 7p signal. Meanwhile, both parents were urged for karyotyping to rule out malsegregation in a translocation heterozygote. The mother has normal chromosomes; the father's chromosomes, however, showed very subtle exchange of material on top of the short arms of one chromosome 7 and one chromosome 9, all very tiny pale stain areas. To further clarify the picture, array CGH (comparative genomic hybridization)-CMDX BAC aCGH CA2500 was ordered using DNA extracted from amniotic fluid back-up culture and the results released: 7p22.3p22.1 (RP11-90P13-RP11936A1)x1, 9p24.3p24.3(RP11-1112G-RP11-635C16)x3. The fetus ended up having a derivative chromose 7, resulting from a paternal reciprocal translocation between 7p and 9p that led to monosomy distal 7p and trisomy distal 9p: 46,XY,der97)t(7p22;9p24)pat. The couple opted for termination of pregnancy. Conclusion: This case demonstrated using molecular techniques, FISH and array CGH, help in dignosing subtle cytogenetic findings that add to the list of structural chromosomal abnormalities related omphalozale
format	Conference or Workshop Item
author	Ismail, Hamizah
author_facet	Ismail, Hamizah
author_sort	Ismail, Hamizah
title	Prenatal ultrasound detection of fetal omphaloccle leading to diagnosis of a subtle unbalanced chromosome translocation: unbalanced chromosome: translocation, der(7) t (7p;9p): case report (to upload)
title_short	Prenatal ultrasound detection of fetal omphaloccle leading to diagnosis of a subtle unbalanced chromosome translocation: unbalanced chromosome: translocation, der(7) t (7p;9p): case report (to upload)
title_full	Prenatal ultrasound detection of fetal omphaloccle leading to diagnosis of a subtle unbalanced chromosome translocation: unbalanced chromosome: translocation, der(7) t (7p;9p): case report (to upload)
title_fullStr	Prenatal ultrasound detection of fetal omphaloccle leading to diagnosis of a subtle unbalanced chromosome translocation: unbalanced chromosome: translocation, der(7) t (7p;9p): case report (to upload)
title_full_unstemmed	Prenatal ultrasound detection of fetal omphaloccle leading to diagnosis of a subtle unbalanced chromosome translocation: unbalanced chromosome: translocation, der(7) t (7p;9p): case report (to upload)
title_sort	prenatal ultrasound detection of fetal omphaloccle leading to diagnosis of a subtle unbalanced chromosome translocation: unbalanced chromosome: translocation, der(7) t (7p;9p): case report (to upload)
publishDate	2009
url	http://irep.iium.edu.my/15194/ http://irep.iium.edu.my/15194/1/Prenatal_Ultrasound_Detection.pdf
first_indexed	2023-09-18T20:24:14Z
last_indexed	2023-09-18T20:24:14Z
_version_	1777408309607792640

Prenatal ultrasound detection of fetal omphaloccle leading to diagnosis of a subtle unbalanced chromosome translocation: unbalanced chromosome: translocation, der(7) t (7p;9p): case report (to upload)

Similar Items