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Titolo:
PARTIAL TRISOMY 1Q WITH GROWTH-HORMONE DEFICIENCY AND NORMAL INTELLIGENCE
Autore:
SCHORRY EK; DIETRICH KN; SAAL HM; BLOUGH RI; DEY S; CHERNAUSEK S; MILATOVICHCHERRY A;
Indirizzi:
CHILDRENS HOSP,MED CTR,DIV HUMAN GENET,3333 BURNET AVE CINCINNATI OH 45229 CHILDRENS HOSP,MED CTR,DIV ENDOCRINOL CINCINNATI OH 45229 UNIV CINCINNATI,DEPT ENVIRONM HLTH CINCINNATI OH 00000 STANFORD UNIV,DEPT PATHOL STANFORD CA 94305
Titolo Testata:
American journal of medical genetics
fascicolo: 4, volume: 77, anno: 1998,
pagine: 257 - 260
SICI:
0148-7299(1998)77:4<257:PT1WGD>2.0.ZU;2-1
Fonte:
ISI
Lingua:
ENG
Soggetto:
CHORIONIC SOMATOMAMMOTROPIN; CHROMOSOME-17; INSERTION; GENES;
Keywords:
CHROMOSOME 1; TRISOMY 1Q; GROWTH HORMONE DEFICIENCY; PITUITARY ABNORMALITIES;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
10
Recensione:
Indirizzi per estratti:
Citazione:
E.K. Schorry et al., "PARTIAL TRISOMY 1Q WITH GROWTH-HORMONE DEFICIENCY AND NORMAL INTELLIGENCE", American journal of medical genetics, 77(4), 1998, pp. 257-260

Abstract

We present two sibs with partial trisomy 1 (q31.1-q32.1) due to a familial insertion. Patient 1 is a girl who presented at age 9 months with minor anomalies, short stature, and normal psychomotor development. Karyotype was 46,XX,der(4)ins(4;1) (p14;q31.1q32.1)pat. The father hada balanced inverted insertion of 1q into 4p, with karyotype 46,XY,ins(4;1)(p14;q31.1q32.1). Al; age 5 years, patient 1 was found to have short stature with documented growth hormone deficiency and ectopic pituitary, Her growth velocity responded well to treatment with growth hormone, Cognitive testing at 5 9/12 years showed normal intelligence with an IQ of 90. Patient 2, the brother of patient 1, presented with intrauterine growth retardation, He has the same chromosomal insertion ashis sister, with partial trisomy 1q, We suggest that there is a recognizable phenotype of trisomy 1(q31.1-q32.1) which includes prenatal and postnatal growth retardation, narrow palpebral fissures, microphthalmia, microstomia, pituitary abnormalities, and normal intelligence in some individuals. (C) 1998 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/11/20 alle ore 12:38:40