A deletion of proximal 20p inherited from a normal mosaic carrier mother in a newborn with panhypopituitarism and craniofacial dysmorphism

Clinical Dysmorphology

Volumn 14, Issue 3, 2005, Pages 137-140

  Garcia Heras, Jaime ^a   Kilani, Ramzi A ^a   Martin, Rick A ^a   Lamp, Stephen ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Deletion 20p11.2; Maternal 20p deletion mosaicism; Maternal origin

Indexed keywords

GROWTH HORMONE; HYDROCORTISONE; THYROID HORMONE;

APGAR SCORE; ARTICLE; AUTISM; CASE REPORT; CHROMOSOME 20P; CHROMOSOME DELETION; CHROMOSOME DELETION 20P; CHROMOSOME MOSAICISM; CLINICAL FEATURE; CYTOGENETICS; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; GESTATIONAL AGE; HETEROZYGOTE; HIRSCHSPRUNG DISEASE; HUMAN; HUMAN CELL; HYPOPITUITARISM; KARYOTYPE; LYMPHOCYTE; MALE; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PHYSICAL EXAMINATION; PREGNANCY; PRIORITY JOURNAL; SCROTUM; TOE MALFORMATION;

ABNORMALITIES, MULTIPLE; ADULT; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 20; CRANIOFACIAL ABNORMALITIES; FEMALE; HETEROZYGOTE; HUMANS; HYPOPITUITARISM; INFANT, NEWBORN; KARYOTYPING; MALE; MOSAICISM; MOTHERS;

EID: 21244498578     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200507000-00006     Document Type: Article

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