Patient with a deletion of chromosome 21q and minimal phenotype [3]

American Journal of Medical Genetics

Volumn 120 A, Issue 1, 2003, Pages 142-143

  Tinkel Vernon, Hilary ^a,b   Finkernagel, Scott ^b   Desposito, Franklin ^c   Pittore, Carol ^d   Reynolds, Kathleen ^b   Sciorra, Leonard ^b  

^a RUTGERS UNIVERSITY   (United States)

^b ROBERT WOOD JOHNSON UNIVERSITY HOSPITAL   (United States)

^c RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

^d Mercer Medical Center   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHILD; CHROMOSOME 21Q; CHROMOSOME DELETION; CLINICAL FEATURE; FLUORESCENCE IN SITU HYBRIDIZATION; GENITAL MALFORMATION; HUMAN; HUMAN CELL; HYPOTHYROIDISM; LETTER; MENTAL RETARDATION MALFORMATION SYNDROME; MULTIPLE MALFORMATION SYNDROME; MUSCLE HYPOTONIA; PHENOTYPE; PRIORITY JOURNAL; SHORT STATURE;

CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, ARTIFICIAL, YEAST; CHROMOSOMES, HUMAN, PAIR 21; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; PHENOTYPE; TIME FACTORS;

EID: 0042823764     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (9)

1. Ahlbom B, Sidenvall R, Anneren G. 1996. Deletion of chromosome 21 in a girl with congenital hypothyroidism and mild mental retardation. Am J Med Genet 64:501-505.
2. Epstein C. 1990. The consequences of chromosome imbalance. Am J Med Genet (Suppl)7:31-37.
3. Gardiner K. 1997. Clonability and gene distribution on human chromosome 21: Reflections of junk DNA content? Gene 205:39-46.
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7. Roland B, Cox D, Hoar D, Fowlow S, Robertson A. 1990. A familial interstitial deletion of the long arm of chromosome 21. Clin Genet 37:423-428.
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9. Yu J, Tong S, Shen Y, Kao F. 1997. Gene identification and DNA sequence analysis in the GC-poor megabase region of human chromosome 21. Proc Natl Acad Sci USA 94:6862-6867.