✦ LIBER ✦

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

✍ Scribed by Kumar, Arun; Cassidy, Suzanne B.; Romero, Lynne; Schwartz, Stuart

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 35 KB
Volume: 86
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990917)86:3<227::aid-ajmg6>3.0.co;2-3

No coin nor oath required. For personal study only.

✦ Synopsis

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 was between markers WI-5023 and D6S1042. The size of the deletion was estimated to be approximately 4-5 Mb. The normal phenotype in this patient might be the result of imprinting of paternal copies of genes located in the segment 6q23. 3-q24.2. Alternatively, the genes located in the segment 6q23.3-q24. 2 might not be subject to dosage effects and therefore the haploinsufficiency of genes in this segment might not have phenotypic consequences.

📜 SIMILAR VOLUMES

Proximal interstitial 6q deletion: A rec

Proximal interstitial 6q deletion: A recognizable syndrome

✍ Kumar, Rajesh; Riordan, Diane; Dawson, Angelika J.; Chudley, Albert E. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 35 KB 👁 4 views

We report on an 8-year-old boy with a proximal interstitial deletion of the long arm of chromosome 6 with breakpoints q13 to q14.2. He has a characteristic facial appearance that is seen in several of the previously described cases. Details of his clinical course are reviewed and compared with the n

Attenuated familial adenomatous polyposi

Attenuated familial adenomatous polyposis in a man with an interstitial deletion of chromosome arm 5q

✍ Pilarski, Robert T.; Brothman, Arthur R.; Benn, Peter; Shulman Rosengren, Sally 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 8 KB

Familial adenomatous polyposis (FAP) is an inherited colon cancer syndrome caused by mutations in the APC gene on chromosome region 5q21. Patients typically present with several hundred to several thousand polyps throughout the colon. Benign and malignant extracolonic manifestations are often presen

Molecular cytogenetic analysis of a de n

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

✍ Kramer, Ralph L.; Feldman, Baruch; Ebrahim, Salah A.D.; Kasperski, Stefanie B.; 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 8 KB 👁 1 views

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, associa

Partial trisomy of chromosome 6q: An int

Partial trisomy of chromosome 6q: An interstitial duplication of the long arm

✍ Zneimer, Susan M.; Ziel, Barbara; Bachman, Ronald 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 12 KB 👁 1 views

We report on a 5-year-old girl with a de novo interstitial duplication of chromosome 6q21-q23 and delayed development and speech with distinctive minor facial anomalies including a ''carp'' mouth. Fluorescence in situ hybridization using a chromosome 6 paint probe confirms that the extra material is

Paternally derived de novo interstitial

Paternally derived de novo interstitial duplication of proximal 15q in a patient with developmental delay

✍ Mohandas, T.K.; Park, Jonathan P.; Spellman, Richard A.; Filiano, James J.; Mamo 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 28 KB 👁 1 views

Interstitial duplications of proximal 15q containing the Prader-Willi syndrome/ Angelman syndrome (PWS/AS) region have been found in patients with autism or atypical autism. In these cases with an abnormal phenotype, the duplications were maternally derived. Paternal origin of the duplication has be

Interstitial deletion of the long arm of

Interstitial deletion of the long arm of chromosome 4 [del(4)(q21.22q23)] and a liver tumor

✍ Suwa, Kiyotaka; Momoi, Mariko Y.; Yamagata, Takanori; Mori, Yuuko 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 12 KB 👁 1 views

We report on a boy with proximal interstitial deletion of chromosome 4, del(4)(q21. 22q23). The patient was born at term with a low birth weight, flat nasal bridge, micrognathia, wide-spaced nipples, clinodactyly of fifth fingers, overlapping fingers, postaxial polydactyly of the right foot, micrope