Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency

Clinical Genetics

Volumn 57, Issue 5, 2000, Pages 388-393

  Nowaczyk, Malgorzata J M ^c   Huggins, Marlene J ^e   Tomkins, Darrell J ^e   Rossi, Elena ^a   Ramsay, Jennifer A ^e   Woulfe, John ^e   Scherer, Stephen W ^b   Belloni, Elena ^a,d  

^a SAN RAFFAELE HOSPITAL   (Italy)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

^d EUROPEAN INSTITUTE OF ONCOLOGY   (Italy)

^e NONE

Author keywords

HLXB9; Holoprosencephaly; Sacral anomalies; SHH; Situs ambiguus

Indexed keywords

HOMEODOMAIN PROTEIN; SONIC HEDGEHOG PROTEIN;

ARTICLE; CASE REPORT; CHROMOSOME 7Q; CHROMOSOME ABERRATION; DOPAMINERGIC NERVE CELL; FETUS; GENETIC ANALYSIS; HEMIZYGOSITY; HOLOPROSENCEPHALY; HUMAN; IMMUNOHISTOCHEMISTRY; KARYOTYPE; MALE; MESENCEPHALON; MONOSOMY 7; MUSCULOSKELETAL SYSTEM MALFORMATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; TRISOMY; TRISOMY 2P;

ABDOMEN; ABNORMALITIES, MULTIPLE; CHROMOSOMES, HUMAN, PAIR 2; CHROMOSOMES, HUMAN, PAIR 7; GENES, HOMEOBOX; HEDGEHOG PROTEINS; HOLOPROSENCEPHALY; HUMANS; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; MALE; MONOSOMY; PROTEINS; RADIOGRAPHY, ABDOMINAL; SACROCOCCYGEAL REGION; TRANS-ACTIVATORS; TRISOMY;

EID: 0034011273     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2000.570510.x     Document Type: Article

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