A new case of proximal monosomy 1p36, extending the phenotype

American Journal of Medical Genetics, Part A

Volumn 146, Issue 15, 2008, Pages 2018-2022

  Rudnik Schöneborn, Sabine ^a   Zerres, Klaus ^a   Häusler, Martin ^a   Lott, Alexandra ^b   Krings, Timo ^a   Schüler, Herdit M ^a  

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^b Centre of Medical Genetics   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ANAMNESIS; AUTOSOMAL RECESSIVE INHERITANCE; BRAIN MALFORMATION; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; COMPUTER ASSISTED TOMOGRAPHY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; GENOTYPE PHENOTYPE CORRELATION; GROWTH RETARDATION; HEARING IMPAIRMENT; HUMAN; LETTER; MENTAL DEFICIENCY; MONOSOMY; MONOSOMY 1P36; MUSCLE HYPOTONIA; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; SEIZURE; ARTICLE; CHROMOSOME 1; DNA MICROARRAY; GENETICS; INFANT; KARYOTYPING; MULTIPLE MALFORMATION SYNDROME; SYNDROME;

ABNORMALITIES, MULTIPLE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; FEMALE; HUMANS; INFANT; KARYOTYPING; MONOSOMY; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; SYNDROME;

EID: 49649108880     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32405     Document Type: Letter

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