Monosomy 11q: Report of new phenotypic manifestations

Genetic Counseling

Volumn 12, Issue 3, 2001, Pages 283-286

  Puvabanditsin, S ^a   Garrow, E ^a   Zia Ullah, Mo ^a   Supavekin, S ^a   Lianthanasarn, P ^a   Denev, K I ^a  

^a JERSEY CITY MEDICAL CENTER   (United States)

Author keywords

Cataracts; Chromosome deletion; Imperforate anus; Monosomy 11q; Multilobed lungs

Indexed keywords

ANUS ATRESIA; ARTICLE; CASE REPORT; CATARACT; CHROMOSOME 11Q; CHROMOSOME DELETION; DISEASE ASSOCIATION; HUMAN; INFANT; LUNG MALFORMATION; MALE; MONOSOMY; PHENOTYPE;

ABNORMALITIES, MULTIPLE; ADULT; CATARACT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 11; FEMALE; HUMANS; INFANT, NEWBORN; LUNG; MALE; MONOSOMY; PHENOTYPE; PREGNANCY; VARIATION (GENETICS);

EID: 0034785353     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (11)

1. Trigonocephaly and the 11q phenotype
2. Distal 11q monosomy
3. Monosomy 11q: Report of two familial cases and review of the literature
4. An(11:21) translocation in four generations with chromosome 11 abnormalities in the offspring
5. Two craniosynostotic patients with 11q deletions, and review of 48 cases
6. Ophthalmic manifestations of chromosome 11q deletion syndrome
7. Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B
8. Central nervous system abnormalities in chromosome deletion at 11q23
9. Clinical and molecular characterization of patients with distal 11q deletion
10. Localization of Jacobsen syndrome breakpoints on a 40Mb physical map of distal chromosome 11q
11. Partial deletion of the long arm of chromosome 11[del(11)(q23.3-qter)] with abnormal white mater