Familial short stature due to a 5q22.1–q23.2 duplication refines the 5q duplication spectrum-Reference-Cited by-同舟云学术

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Familial short stature due to a 5q22.1–q23.2 duplication refines the 5q duplication spectrum

Published:2011-09 Issue:5 Volume:54 Page:e521-e524
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Zahnleiter Diana,Trautmann Udo,Ekici Arif B.,Goehring Ina,Reis André,Dörr Helmuth-Günther,Rauch Anita,Thiel Christian T.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference15 articles.

1. Partial proximal trisomy of the long arm of chromosome 5 (q13 leads to q22) resulting from maternal insertion der ins (10;5);Gilgenkrantz;J. Med. Genet.,1981

2. Familial insertion (3;5)(q25.3;q22.1q31.3) with deletion or duplication of chromosome region 5q22.1–5q31.3 in ten unbalanced carriers;Arens;Am. J. Med. Genet. A,2004

3. The trisomy (5)(q31-qter) syndrome: study of a family with a t(5:14) translocation;Elias-Jones;Arch. Dis. Child,1988

4. Balanced rearrangement of chromosomes 2, 5, and 13 in a family with duplication 5q and fetal loss;Evans;Am. J. Med. Genet.,1984

5. Distinct dysmorphic syndrome in a child with inverted distal 5q duplication;Fryns;Ann. Genet.,1987

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1. Prenatal diagnosis of a 5q35.3 microduplication involving part of the ADAMTS2 locus: a likely benign variant without apparent phenotypic abnormality;Medicine;2019-12

2. Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome;American Journal of Medical Genetics Part A;2015-06-16

3. The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1 : Is it really a reversed sotos syndrome?;American Journal of Medical Genetics Part A;2013-08-02

4. A Family with an Inverted Tandem Duplication 5q22.1q23.2;Cytogenetic and Genome Research;2013

5. Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy;European Journal of Medical Genetics;2012-10

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