A novel presentation of a rare chromosome 21q22.2 deletion

Clinical Dysmorphology

Volumn 18, Issue 1, 2009, Pages 57-58

  Miller, Andrew C ^a,b,e   Rashid, Rashid M ^c   Muraskas, Jonathan K ^d  

^a SUNY DOWNSTATE MEDICAL CENTER   (United States)

^b KINGS COUNTY HOSPITAL CENTER   (United States)

^c UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^d LOYOLA UNIVERSITY CHICAGO   (United States)

^e STATE UNIVERSITY OF NEW YORK   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 21Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL FEATURE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; INFANT; MICROARRAY ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PRIORITY JOURNAL; ULTRASOUND;

BRAIN; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 21; FEMALE; HUMANS; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; PHENOTYPE;

EID: 58149236873     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e3283157dc6     Document Type: Article

References (4)

1. Ahlbom BE, Sidenvall R, Annerén G (1996). Deletion of chromosome 21 in a girl with congenital hypothyroidism and mild mental retardation. Am J Med Gen 64:501-505.
2. Chettouh Z, Croquette MF, Delobel B, Gilgenkrants S, Leonard C, Maunoury C, et al. (1995). Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region. Am J Hum Genet 57:62-71.
3. Smith DJ, Rubin EM (1997). Functional screening and complex traits: human 21q22.2 sequences affecting learning in mice. Hum Mol Genet 6: 1729-1733.
4. Yao G, Chen X, Flores-Sarnat L, Barlow GM, Palka G, Moeschler JB, et al. (2006). Deletion of chromosome 21 disturbs human brain morphogenesis. Genef Med 8:1-7.