✦ LIBER ✦

Molecular cytogenetic analysis of a de novo 5q31q33 deletion associated multiple congenital anomalies: Case report

✍ Scribed by Kramer, Ralph L.; Feldman, Baruch; Ebrahim, Salah A.D.; Kasperski, Stefanie B.; Johnson, Mark P.; Evans, Mark I.

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 8 KB
Volume: 82
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990115)82:2<143::aid-ajmg8>3.0.co;2-v

No coin nor oath required. For personal study only.

✦ Synopsis

Interstitial deletions are relatively rare chromosomal anomalies that usually arise de novo. The data describing the phenotype associated with interstitial deletions of 5q are very limited. We describe the first case of multiple fetal anomalies, diagnosed on prenatal sonographic examination, associated with a deletion at 5q31q33. Sonographic examination at 23 weeks' gestation demonstrated growth parameters consistent with 20 weeks' gestation; a 7-mm nuchal fold; a dilated loop of bowel adjacent to the stomach suggestive of duodenal atresia; clubbing of the left foot; a narrow aorta; suspected ventricular septal defect; and placental thickening. The patient delivered a severely growth-restricted fetus and enlarged placenta at 30 weeks' gestation.

📜 SIMILAR VOLUMES

De novo deletion 12q: Report of a patien

De novo deletion 12q: Report of a patient with 12q24.31q24.33 deletion

✍ Sathya, Pushpa; Tomkins, Darrell J.; Freeman, Viola; Paes, Bosco; Nowaczyk, Ma?g 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 18 KB 👁 1 views

We report on a patient with de novo interstitial deletion of the long arm of chromosome 12: 46,XY,del(12)(q24.31q24.33). To our knowledge this is the first patient with this chromosomal abnormality reported. He was born with minor anomalies, ambiguous genitalia, tracheomalacia, and he was developmen

Molecular cytogenetics of a de novo inte

Molecular cytogenetics of a de novo interstitial deletion of chromosome arm 6q in a developmentally normal girl

✍ Kumar, Arun; Cassidy, Suzanne B.; Romero, Lynne; Schwartz, Stuart 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 35 KB 👁 1 views

Using fluorescence in situ hybridization and microsatellite analysis, we have characterized a de novo interstitial deletion on the long arm of chromosome 6 [46,XX,del(6) (q23.3q24.2)] in a developmentally normal girl with very mild phenotypic abnormalities. The deletion was paternal in origin and wa

Molecular cytogenetic analysis of patien

Molecular cytogenetic analysis of patients with holoprosencephaly and structural rearrangements of 7q

✍ Vance, Gail H.; Nickerson, Catherine; Sarnat, Lauren; Zhang, Aiwu; Henegariu, Oc 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 49 KB 👁 1 views

The holoprosencephaly (HPE) sequence is a malformation complex with abnormal midline cleavage of the embryonic forebrain. HPE is genetically heterogeneous with at least 6 different chromosome regions containing genes involved in the expression of the phenotype. HPE3, recently identified as the human

De novo 7q36 deletion: Breakpoint analys

De novo 7q36 deletion: Breakpoint analysis and types of holoprosencephaly

✍ Frints, Suzanna G.M.; Schoenmakers, Eric F.P.M.; Smeets, Eric; Petit, Paul; Fryn 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 45 KB 👁 1 views

We report on a de novo 7q36 deletion in a 3-month-old girl with manifestations of the 7q terminal deletion syndrome. Only minimal findings of holoprosencephaly (HPE) were present since only a partial corpus callosum hypoplasia was seen on a magnetic resonance imaging scan of the brain. Extensive flu

Trisomy 2q35-q37 due to insertion of 2q

Trisomy 2q35-q37 due to insertion of 2q material into 17q25: Clinical, cytogenetic, and molecular cytogenetic characterization

✍ Fritz, Barbara; M�ller-Navia, Jutta; Hillig, Ulrike; K�hler, Martin; Aslan, M�ce 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 34 KB

We present a 7-year-old boy with growth retardation, developmental and mental delay, and minor physical abnormalities. The patient had a male karyotype with duplicated material of unknown origin in the long arm of chromosome 17. The origin of the duplicated material was clarified by fluorescence in

Congenital anomalies and anthropometry o

Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q

✍ Cody, Jannine D.; Davis Ghidoni, Patricia; DuPont, Barbara R.; Hale, Daniel E.; 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 81 KB 👁 2 views

Most deletions are terminal encompassing as much as 36 Mb, but interstitial deletions have also been reported. We have evaluated 42 subjects with deletions of 18q at our institution. This is the largest number of individuals with this chromosome abnormality studied by one group of investigators. Her