✦ LIBER ✦

Partial duplicaton of distal 17q

✍ Scribed by Bridge, Julie ;Sanger, Warren ;Mosher, Gayle ;Buehler, Bruce ;Hearty, Christine ;Olney, Ann ;Fordyce, Renee ;Opitz, John M. ;Reynolds, James F.

Publisher: John Wiley and Sons
Year: 1985
Tongue: English
Weight: 347 KB
Volume: 22
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320220203

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Partial deletion of distal 17q

✍ Bridge, Julie ;Sanger, Warren ;Mosher, Gayle ;Buehler, Bruce ;Nelson, Robert ;We 📂 Article 📅 1985 🏛 John Wiley and Sons 🌐 English ⚖ 317 KB

A newborn female was found to have a deletion of the terminal portion of 17q. Prominent manifestations included microcephaly, apparent hypertelorism, epicanthic folds, a broad nasal bridge with anteverted nostrils, posteriorly angulated ears, micrognathia, widely spaced nipples, arachnodactyly with

Duplication of distal 17q: Report of an

Duplication of distal 17q: Report of an observation

✍ Naccache, Nadyr F. ;Vianna-Morgante, Angela M. ;Richieri-Costa, A. ;Opitz, John 📂 Article 📅 1984 🏛 John Wiley and Sons 🌐 English ⚖ 307 KB 👁 1 views

Partial monosomy of distal 10q: Three ne

Partial monosomy of distal 10q: Three new cases and a review

✍ Waggoner, Darrel J.; Chow, Clara K.; Dowton, S. Bruce; Watson, Michael S. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 25 KB 👁 2 views

We report on 3 patients with partial deletions of the long arm of chromosome 10-4 6 , X Y , d e l ( 1 0 ) ( q 2 6 . 2 ) , 4 6 , X X , d e l ( 1 0 ) (q25.3q26.3) or 46,XX,del(10)(q26.1), and 46,XX,del (10)(q26.1). They are compared with other known cases with interstitial or terminal deletions involv

Duplication of distal 22q

✍ Abeliovich, Dvorak ;Maor, Esther ;Bashan, Nava ;Carmi, Rivka 📂 Article 📅 1989 🏛 John Wiley and Sons 🌐 English ⚖ 471 KB 👁 1 views

We report on three patients with duplication of distal 22s. One patient is a de novo carrier of the translocation t(21;22) (p13;qll), the other two are offspring of a translocation carrier t( 10;22) (q26;q12). The clinical manifestations of these patients demonstrate the variability of the dup(22q)

Inverted duplication of 1q32.1 to 1q44 c

Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy

✍ Meena Balasubramanian; John C.K. Barber; Morag N. Collinson; Shuwen Huang; Viv K 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 301 KB 👁 1 views

Duplication of the distal segment of 14q

✍ Atkin, Joan F. ;Patil, Shivanand ;Opitz, John M. 📂 Article 📅 1983 🏛 John Wiley and Sons 🌐 English ⚖ 471 KB 👁 1 views