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Volumn 108, Issue 1, 2002, Pages 69-74

Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation

(7) Mégarbané, André a Bejjani, Bassem A b Shaffer, Lisa G b Jambart, Sélim c Souraty, Noelle a Kashork, Catherine D b Le Merrer, Martine d

a SAINT JOSEPH UNIVERSITY (Lebanon)

b BAYLOR COLLEGE OF MEDICINE (United States)

c Service d'Endocrinologie Médicale (France)

d HÔPITAL NECKER ENFANTS MALADES (France)

Author keywords

11q deletion; 6p trisomy; Brachydactyly; Deafness; FISH; Frontal bossing; Hypertelorism; Ptosis; Short stature; Single palmar creases; Telomere; Translocation

Indexed keywords

ARTICLE; BRACHYDACTYLY; CASE REPORT; CHILD; CHROMOSOME 11Q; CHROMOSOME 6P; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION 11; CHROMOSOME TRANSLOCATION 6; CLINICAL EXAMINATION; CONGENITAL DEAFNESS; CRANIOFACIAL MALFORMATION; HUMAN; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; PRIORITY JOURNAL; SHORT STATURE; SYNDROME DELINEATION; TELOMERE; TWINS;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 6; CRANIOFACIAL ABNORMALITIES; DEAFNESS; DISEASES IN TWINS; DWARFISM; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; LIMB DEFORMITIES, CONGENITAL; MALE; MENTAL RETARDATION; TELOMERE; TRANSLOCATION, GENETIC; TWINS, MONOZYGOTIC;

EID: 0037083017 PISSN: 01487299 EISSN: None Source Type: Journal
DOI: 10.1002/ajmg.10222 Document Type: Article

Times cited : (5)

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