Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems

Adam J de Smith; Mieke M van Haelst; Richard J Ellis; Susan E Holder; Stewart J Payne; Sugera K Hashim; Philippe Froguel; Alexandra I F Blakemore

doi:10.1002/ajmg.a.33986

Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems

Adam J de Smith
, Mieke M van Haelst
, Richard J Ellis
, Susan E Holder
, Stewart J Payne
, Sugera K Hashim
, Philippe Froguel
, Alexandra I F Blakemore

Department of Genomics of Common Disease, Imperial College London, Hammersmith Hospital Campus, UK.

Research output: Contribution to journal › Article › Academic › peer-review

Original language	English
Pages (from-to)	1192-5
Number of pages	4
Journal	American journal of medical genetics. Part A
Volume	155A
Issue number	5
DOIs	https://doi.org/10.1002/ajmg.a.33986
Publication status	Published - May 2011

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Adolescent
Chromosome Deletion
Chromosomes, Human, Pair 19
Comparative Genomic Hybridization
Exons
Female
Gene Dosage
Humans
Intellectual Disability/genetics
Megalencephaly/genetics
Mental Disorders/genetics
Obesity/genetics

Access to Document

10.1002/ajmg.a.33986

Cite this

@article{841aac8e69e4412a94302864d92b7ca4,

title = "Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems",

keywords = "Adolescent, Chromosome Deletion, Chromosomes, Human, Pair 19, Comparative Genomic Hybridization, Exons, Female, Gene Dosage, Humans, Intellectual Disability/genetics, Megalencephaly/genetics, Mental Disorders/genetics, Obesity/genetics",

author = "\{de Smith\}, \{Adam J\} and \{van Haelst\}, \{Mieke M\} and Ellis, \{Richard J\} and Holder, \{Susan E\} and Payne, \{Stewart J\} and Hashim, \{Sugera K\} and Philippe Froguel and Blakemore, \{Alexandra I F\}",

year = "2011",

month = may,

doi = "10.1002/ajmg.a.33986",

language = "English",

volume = "155A",

pages = "1192--5",

journal = "American journal of medical genetics. Part A",

issn = "1552-4825",

publisher = "Wiley-Liss Inc.",

number = "5",

}

TY - JOUR

T1 - Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems

AU - de Smith, Adam J

AU - van Haelst, Mieke M

AU - Ellis, Richard J

AU - Holder, Susan E

AU - Payne, Stewart J

AU - Hashim, Sugera K

AU - Froguel, Philippe

AU - Blakemore, Alexandra I F

PY - 2011/5

Y1 - 2011/5

KW - Adolescent

KW - Chromosome Deletion

KW - Chromosomes, Human, Pair 19

KW - Comparative Genomic Hybridization

KW - Exons

KW - Female

KW - Gene Dosage

KW - Humans

KW - Intellectual Disability/genetics

KW - Megalencephaly/genetics

KW - Mental Disorders/genetics

KW - Obesity/genetics

U2 - 10.1002/ajmg.a.33986

DO - 10.1002/ajmg.a.33986

M3 - Article

SN - 1552-4825

VL - 155A

SP - 1192

EP - 1195

JO - American journal of medical genetics. Part A

JF - American journal of medical genetics. Part A

IS - 5

ER -