Silver-Russell phenotype in a patient with pure trisomy 1q32.1-q42.1: further delineation of the pure 1q trisomy syndrome

M M van Haelst; H J F M M Eussen; F Visscher; J L M de Ruijter; S L S Drop; D Lindhout; C H Wouters; L C P Govaerts

doi:10.1136/jmg.39.8.582

Silver-Russell phenotype in a patient with pure trisomy 1q32.1-q42.1: further delineation of the pure 1q trisomy syndrome

M M van Haelst, H J F M M Eussen, F Visscher, J L M de Ruijter, S L S Drop, D Lindhout, C H Wouters, L C P Govaerts

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

Original language	English
Pages (from-to)	582-5
Number of pages	4
Journal	Journal of Medical Genetics
Volume	39
Issue number	8
DOIs	https://doi.org/10.1136/jmg.39.8.582
Publication status	Published - Aug 2002

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10.1136/jmg.39.8.582

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@article{546e10f1806c46bb8352cef83f703644,

title = "Silver-Russell phenotype in a patient with pure trisomy 1q32.1-q42.1: further delineation of the pure 1q trisomy syndrome",

keywords = "Abnormalities, Multiple/genetics, Adult, Chromosomes, Human, Pair 1/genetics, Fetal Growth Retardation/genetics, Humans, In Situ Hybridization, Fluorescence, Intellectual Disability/genetics, Karyotyping, Male, Phenotype, Syndrome, Trisomy/genetics, Uniparental Disomy/genetics",

author = "{van Haelst}, {M M} and Eussen, {H J F M M} and F Visscher and {de Ruijter}, {J L M} and Drop, {S L S} and D Lindhout and Wouters, {C H} and Govaerts, {L C P}",

year = "2002",

month = aug,

doi = "10.1136/jmg.39.8.582",

language = "English",

volume = "39",

pages = "582--5",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group",

number = "8",

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T1 - Silver-Russell phenotype in a patient with pure trisomy 1q32.1-q42.1

T2 - further delineation of the pure 1q trisomy syndrome

AU - van Haelst, M M

AU - Eussen, H J F M M

AU - Visscher, F

AU - de Ruijter, J L M

AU - Drop, S L S

AU - Lindhout, D

AU - Wouters, C H

AU - Govaerts, L C P

PY - 2002/8

Y1 - 2002/8

KW - Abnormalities, Multiple/genetics

KW - Adult

KW - Chromosomes, Human, Pair 1/genetics

KW - Fetal Growth Retardation/genetics

KW - Humans

KW - In Situ Hybridization, Fluorescence

KW - Intellectual Disability/genetics

KW - Karyotyping

KW - Male

KW - Phenotype

KW - Syndrome

KW - Trisomy/genetics

KW - Uniparental Disomy/genetics

U2 - 10.1136/jmg.39.8.582

DO - 10.1136/jmg.39.8.582

M3 - Article

C2 - 12161598

VL - 39

SP - 582

EP - 585

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

SN - 0022-2593

IS - 8

ER -