A unique case of a patient with partial trisomy 22 and lipodystrophy: Is it a new syndrome due to an IGF-IR mutation?

Genetic Counseling

Volumn 21, Issue 2, 2010, Pages 187-197

  Caglayan, Ahmet Okay ^a,d   Klammt, J ^b   Kiess, W ^b   Hatipoglu, N ^c   Pfaffle R ^b   Kurtoglu, S ^c   Saatci, C ^c   Dundar, M ^c  

^a KAYSERI EDUCATION AND RESEARCH HOSPITAL   (Turkey)

^b UNIVERSITY OF LEIPZIG   (Germany)

^c ERCIYES UNIVERSITY MEDICAL FACULTY   (Turkey)

^d Erdener Appartment No:6/23   (Turkey)

Author keywords

Chromosome 22; IGF IR; Partial trisomy

Indexed keywords

GROWTH HORMONE; SOMATOMEDIN C; SOMATOMEDIN C RECEPTOR;

ARTICLE; CASE REPORT; CHROMOSOME 22; CHROMOSOME ABERRATION; CHROMOSOME TRANSLOCATION; EXON; FACE MALFORMATION; GENETIC ANALYSIS; GENITAL MALFORMATION; GROWTH HORMONE BLOOD LEVEL; HUMAN; HYPERPIGMENTATION; HYPERTRICHOSIS; INSULIN BLOOD LEVEL; INTESTINE MALROTATION; KARYOTYPE; KARYOTYPING; LABORATORY TEST; LIPODYSTROPHY; MALE; MARKER CHROMOSOME; MUTATION; NEWBORN; PARTIAL TRISOMY; PARTIAL TRISOMY 22; PATHOGENESIS; PHENOTYPIC VARIATION;

ABNORMALITIES, MULTIPLE; CHROMOSOMES, HUMAN, PAIR 22; HUMANS; INFANT, NEWBORN; LIPODYSTROPHY; MALE; MUTATION; RECEPTOR, IGF TYPE 1; SYNDROME; TRISOMY;

EID: 77954691464     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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