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Concerning ?14q(22) deletion in a familial case of anophthalmia with polydactyly?

✍ Scribed by Velagaleti, Gopalrao V.N.

Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 26 KB
Volume: 126A
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.a.20521

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📜 SIMILAR VOLUMES

In response to Dr. Carlos A. Bacino and

In response to Dr. Carlos A. Bacino and Dr. Gopalrao V.N. Velagaleti concerning ?14q(22) deletion in a familial case of anophthalmia with polydactyly?

✍ Kucheria, Kiran 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 30 KB 👁 2 views

Fig. 1. Partial karyotype showing del(14q).

14q(22) deletion in a familial case of a

14q(22) deletion in a familial case of anophthalmia with polydactyly

✍ Ahmad, M.E. ;Dada, Rima ;Dada, Tanuj ;Kucheria, Kiran 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 175 KB 👁 2 views

## Abstract We report a family of anophthalmia with ocular and extraocular manifestations. The proband, his three sisters, and two sons had anophthalmia and preaxial polydactyly in the right hand. Cytogenetic analysis was done for the proband and two of his sons, one of whom was affected. Another m

Re: Clinical report by Ahmad et al. 14q(

Re: Clinical report by Ahmad et al. 14q(22) deletion in a familial case of anophthalmia with polydactyly

✍ Bacino, Carlos A. 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 30 KB 👁 2 views

Del(14)(q22.1q23.2) in a patient with an

Del(14)(q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasia

✍ Lemyre, E.; Lemieux, N.; D�carie, J.C.; Lambert, M. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 36 KB 👁 1 views

Only few cases with an interstitial deletion of chromosome 14 have been described so far. We report on a 21-month-old girl with an interstitial deletion of the long arm of chromosome 14, del(14)(q22.1q23.2). She presented with bilateral anophthalmia, absent left external auditory canal, facial asymm

Seven new cases of cayler cardiofacial s

Seven new cases of cayler cardiofacial syndrome with chromosome 22q11.2 deletion, including a familial case

✍ Bawle, Erawati V.; Conard, Joan; Van Dyke, Daniel L.; Czarnecki, Paula; Driscoll 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 50 KB 👁 2 views

of Cases With Asymmetric Crying Face and del(22)(q11.2) Detected by FISH Age Case 1 9 years Case 2 4 weeks Case 3 3 years Case 4 24 years Case 5 e 3 years Case 6 2 weeks Case 7 Normal a VPI, velopalatal insufficiency. b DAOM: Depressor Anguli Oris Muscle. c VSD, ventricular septal defect. d All show

Molecular characterization of 22q11 dele

Molecular characterization of 22q11 deletion in a three-generation family with maternal transmission

✍ Iascone, Maria R. ;Vittorini, Simona ;Sacchelli, Monica ;Spadoni, Isabella ;Simi 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 172 KB 👁 2 views

## Abstract Haploinsufficiency of chromosome 22q11.2 is a well‐established cause of both the DiGeorge anomaly and the velocardiofacial syndrome. This condition shows a continuous spectrum of phenotypic manifestations with a considerable inter‐ and intrafamilial variability. We report on a three‐gen