Developmental delay and dysmorphic features in a girl with a de novo 5.4 Mb deletion of 13q12.11‐q12.13-Reference-Cited by-同舟云学术

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Developmental delay and dysmorphic features in a girl with a de novo 5.4 Mb deletion of 13q12.11‐q12.13

Published:2019-06-27 Issue:2 Volume:60 Page:73-74
ISSN:0914-3505
Container-title:Congenital Anomalies
language:en
Short-container-title:Congenit Anom

Author:

Tominaga Makiko¹²,Saito Toshiyuki³,Masuno Mitsuo⁴,Umeda You²,Kurosawa Kenji¹^ORCID

Affiliation:

1. Division of Medical GeneticsKanagawa Children's Medical Center Yokohama Japan

2. Children's Medical CenterShowa University Northern Yokohama Hospital Yokohama Japan

3. Department of Clinical LaboratoryKanagawa Children's Medical Center Yokohama Japan

4. Genetic Counseling Program, Graduate School of Health and WelfareKawasaki University of Medical Welfare Kurashiki Japan

Funder

Ministry of Health, Labour and Welfare

Publisher

Wiley

Subject

Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cga.12346

Reference6 articles.

1. Mild phenotype in a patient with a de‐novo 2.9‐Mb interstitial deletion at 13q12.11;Tanteles GA;Clin Dysmorphol,2011

2. A de novo 2.1-Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic features

3. A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics

4. Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13

5. Hearing impairment in a female infant with interstitial deletion of 2q24.1q24.3

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