✦ LIBER ✦

Recurrence of apparent de novo 21/21 translocation trisomy in a sibship

✍ Scribed by Rina Schmidt; Harold M. Nitowsky

Book ID: 119456325
Publisher: Elsevier Science
Year: 1977
Tongue: English
Weight: 189 KB
Volume: 90
Category: Article
ISSN: 1097-6833
DOI: 10.1016/s0022-3476(77)81269-9

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Recurrence Risk in De Novo 21q21q Transl

Recurrence Risk in De Novo 21q21q Translocation Down Syndrome

✍ Hall, Bryan D. ;Opitz, John M. ;Reynolds, James F. 📂 Article 📅 1985 🏛 John Wiley and Sons 🌐 English ⚖ 113 KB 👁 1 views

## An article by Steinberg et a1 [1984] cautioned against the potential error of counseling families a low-recurrence risk when a previous child has had a de novo 21q21q translocation Down syndrome. They also studied 112 families (ie, sets of parents) with a child with de novo 21q21q translocatio

Recurrence rate for de novo 21q21q trans

Recurrence rate for de novo 21q21q translocation Down syndrome: A study of 112 families

✍ Steinberg, Charlotte ;Zackai, Elaine H. ;Eunpu, Deborah L. ;Mennuti, Michael T. 📂 Article 📅 1984 🏛 John Wiley and Sons 🌐 English ⚖ 438 KB 👁 1 views

## Abstract Recurrence of de novo GqGq Down syndrome (DS) in nine reported families and the low frequency of this chromosome abnormality in the population prompted this multicenter study to examine recurrence rate. Pedigrees and cytogenetic findings were analyzed from 112 families ascertained by a

Molecular study of parental origin of ex

Molecular study of parental origin of extra chromosome 21 in regular and de novo translocation trisomies

✍ Brahe, Christina ;Tassone, Flora ;Moscetti, Alessandra ;Millington-Ward, Athos ; 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 437 KB 👁 2 views

Partial trisomy 3q due to a de novo tran

Partial trisomy 3q due to a de novo translocation t(X;3) (p21;q12)

✍ J. W. E. OORTHUYS; R. M. SLATER; H. BARROWCLOUGH; M. J. K. DE KLEINE 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 316 KB

Hypoplastic left heart in a female infan

Hypoplastic left heart in a female infant with partial trisomy 4q due to de novo 4;21 translocation

✍ Velinov, Milen ;Gu, Hong ;Yeboa, Keame ;Warburton, Dorothy ;Tubo, Taknida ;Dhupe 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 257 KB 👁 1 views

## Abstract We present a female infant with mild dysmorphic features and congenital heart defect: hypoplastic left heart with aortic atresia and hypoplastic aortic arch, ventricular septal defect, and a nonrestrictive atrial communication. Chromosome analysis showed an unbalanced translocation that

De novo balanced translocation (6;18)(q2

De novo balanced translocation (6;18)(q21;q21.3) in a patient with heterotaxia

✍ Kato, Rumiko; Yamada, Yutaka; Niikawa, Norio 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 279 KB 👁 1 views

We report on a sporadic case of heterotaxia with a de novo chromosome structural abnormality. The patient had inversely located heart (dextrocardia), stomach, duodenum, and cecum. In addition, she had cerebral atrophy, hypertelorism with telecanthus, infraorbital skin furrows, ear-lobe grooves, prom