Dysmorphic sibs trisomic for the region 6q22.1→6q23.3 [6]

Journal of Medical Genetics

Volumn 37, Issue 11, 2000, Pages 889-892

  Goh, D L M ^a   Tan, A S C ^a   Chen, J Y C ^a   Van Den Berghe, J A ^a  

^a NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

Author keywords

[No Author keywords available]

Indexed keywords

BRACHYCEPHALY; CASE REPORT; CHROMOSOME 6Q; CHROMOSOME 7Q; CHROMOSOME INSERTION; CHROMOSOME PAINTING; CLINODACTYLY; CRANIOFACIAL MALFORMATION; EYEBROW; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HYPERTELORISM; INTELLIGENCE QUOTIENT; KARYOTYPE 46,XX; KARYOTYPE 46,XY; LETTER; LYMPHOCYTE CULTURE; MALE; MIDFACE HYPOPLASIA; MOTHER; MOUTH MALFORMATION; PALPEBRAL FISSURE ANOMALY; PARTIAL TRISOMY; PERIPHERAL LYMPHOCYTE; PHENOTYPE; PRIORITY JOURNAL; SIBLING; SLEEP APNEA SYNDROME;

ADOLESCENT; ADULT; CHILD; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 6; FAMILY HEALTH; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; PEDIGREE; TRISOMY;

EID: 0033747988     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

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4. Duplication 6q24→6qter in an infant from a balanced paternal translocation
5. Duplication-deletion syndrome in a family with pericentric inversion of chromosome 6
6. An infant with trisomy 6q21→6qter
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22. Partial trisomy 6q and bilateral retinal detachment
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26. Obstructive sleep apnea syndrome in a family with Crouzon's syndrome