A child with multiple congenital anomalies and karyotype 46,XY,del(14)(q31q32.3): Further delineation of chromosome 14 interstitial deletion syndrome-Reference-Cited by-同舟云学术

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A child with multiple congenital anomalies and karyotype 46,XY,del(14)(q31q32.3): Further delineation of chromosome 14 interstitial deletion syndrome

Published:1990-12 Issue:4 Volume:37 Page:471-474
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Gorski Jerome L.,Uhlmann Wendy R.,Glover Thomas W.

Publisher

Wiley

Subject

Genetics (clinical)

Reference6 articles.

1. Distal monosomy 14 not associated with ring formation.

2. Deletion 14q and pericentric inversion 14.

3. (1984): “Catalogue of Unbalanced Chromosome Aberrations in Man.” Berlin: Walter de Gruyter, pp 536-538.

Cited by 21 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A 14q31.1-q32.11 deletion case: Genotype – Neurological Phenotype Correlations in 14q interstitial deletion syndrome;Romanian Biotechnological Letters;2020-06-06

2. Prenatal diagnosis of partial trisomy 3q (3q27.3→qter) and partial monosomy 14q (14q31.3→qter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible joints;Gene;2013-03

3. An unmasked mutation ofEIF2B2due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease;American Journal of Medical Genetics Part A;2012-06-07

4. A child with an inherited 0.31 Mb microdeletion of chromosome 14q32.33: Further delineation of a critical region for the 14q32 deletion syndrome;American Journal of Medical Genetics Part A;2012-04-09

5. Unique Combination of 22q11 and 14qter Microdeletion Syndromes Detected Using Oligonucleotide Array-CGH;Molecular Syndromology;2011

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