✦ LIBER ✦

Familial dup(5)(q15q21) associated with normal and abnormal phenotypes

✍ Scribed by Li, Shuan-Yow; Gibson, Lisa H.; Gomez, Kevin; Pober, Barbara R.; Yang-Feng, Teresa L.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 14 KB
Volume: 75
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980106)75:1<75::aid-ajmg15>3.0.co;2-p

No coin nor oath required. For personal study only.

✦ Synopsis

We studied a familial dup(5q) present in a phenotypically normal father and his monozygotic twin daughters with different abnormal phenotypes. High-resolution chromosome analysis suggested that the duplicated segment was of region q15-21, which seems to be the smallest dup(5q) reported thus far. This dup(5q) was confirmed by fluorescence in situ hybridization with a chromosome 5 painting library and 5q cosmid clones. The presence of the dup(5q) in a normal father suggested that the duplication itself may be harmless. The anomalies in the twins may be due to processes other than this chromosome change. Am.

📜 SIMILAR VOLUMES

Partial trisomy 1q with growth hormone d

Partial trisomy 1q with growth hormone deficiency and normal intelligence

✍ Schorry, E.K.; Dietrich, K.N.; Saal, H.M.; Blough, R.I.; Dey, S.; Chernausek, S. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 20 KB 👁 1 views

We present two sibs with partial trisomy 1 (q31.1-q32.1) due to a familial insertion. Patient 1 is a girl who presented at age 9 months with minor anomalies, short stature, and normal psychomotor development. K a r y o t y p e w a s 4 6 , X X , d e r ( 4 ) i n s ( 4 ; 1 ) (p14;q31.1q32.1)pat. The fa

Familial growth hormone deficiency assoc

Familial growth hormone deficiency associated with MRI abnormalities

✍ Hamilton, Jill; Chitayat, David; Blaser, Susan; Cohen, Laurie E.; Phillips, John 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 25 KB 👁 1 views

Idiopathic growth hormone deficiency is, in most cases, a sporadic condition. In a number of these patients magnetic resonance imaging (MRI) demonstrates a small anterior pituitary, small or absent pituitary stalk, and ectopically located posterior pituitary. These findings have been attributed to a

21 Q-In-Law

✍ David, Peter 📂 Fiction 📅 1991 🏛 Simon and Schuster;Pocket Books 🌐 en-GB ⚖ 120 KB 👁 2 views

SUMMARY: When two powerful rival families of the spacefaring merchant race called the Tizarin are to be joined through marriage, theU.S.S. Enterprise™ is chosen as the site for the wedding. Though Captain Picard is pleased by the happy duty, his pleasure is cut short by the arrival of the Federati

Una familia normal

✍ Alejandra Parejo 📂 Fiction 📅 2019 🏛 Temas de Hoy 🌐 Spanish ⚖ 235 KB 👁 1 views

El mismo día en que le ofrecen uno de los proyectos más importantes de su carrera, Olivia se da cuenta de que está embarazada. Tiene 31 años, una relación aparentemente sólida con Mario y una economía estable, pero nada de eso la convence de que ha llegado su hora de ser madre. ¿En qué consiste ser

Una familia normal

✍ Alejandra Parejo 📂 Fiction 📅 2019 🏛 Temas de Hoy 🌐 Spanish ⚖ 202 KB

Exclusion of genetic linkage to 4q21-23

Exclusion of genetic linkage to 4q21-23 and 17q21 in a family with lewy body parkinsonism

✍ Hardy, John; P�rez-Tur, Jordi; Baker, Matt; Farrer, Matt; Crook, Richard; Hutton 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 35 KB

Genetic analysis of markers from chromosomes 4q21-23 and 17q21 in a family with apparently autosomal dominant Lewy body parkinsonism is presented. This analysis shows that the locus leading to this disease is not allelic with that previously shown to lead to Lewy body parkinsonism on chromosome 4 or