Severe psychomotor retardation in a boy with a small supernumerary marker chromosome 19p

Cytogenetic and Genome Research

Volumn 121, Issue 3-4, 2008, Pages 298-301

  Vranekovic J ^a   Brajenovic Milic B ^a   Modrusan Mozetic Z ^b   Babic I ^a   Kapovic M ^a  

^a UNIVERSITY OF RIJEKA   (Croatia)

^b UNIVERSITY OF RIJEKA   (Croatia)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CENTROMERE; CHILDHOOD DISEASE; CHROMOSOME 19P; CHROMOSOME PAINTING; DISEASE SEVERITY; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; KARYOTYPE; MALE; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SCHOOL CHILD; SUPERNUMERARY CHROMOSOME;

ABNORMALITIES, MULTIPLE; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 19; FACIES; HUMANS; INFANT; KARYOTYPING; MAGNETIC RESONANCE IMAGING; MALE; PSYCHOMOTOR PERFORMANCE; TEMPORAL LOBE;

EID: 50849098188     PISSN: 14248581     EISSN: None     Source Type: Journal    
DOI: 10.1159/000138902     Document Type: Article

References (6)

1. Crolla JA, Youings SA, Ennis S, Jacobs PA: Supernumerary marker chromosomes in man: prenatal origin, mosaicism and maternal age revisited. Eur J Hum Genet 13:154-160 (2005).
2. Graf MD, Christ L, Mascarello JT, Mowrey P, Pettenati M, et al: Redefining the risks of prenatally ascertained supernumerary marker chromosomes: a collaborative study. J Med Genet 43:660-664 (2006).
3. Liehr T, Weise A: Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostic. Int J Mol Med 19:719-731 (2007).
4. Novelli A, Ceccarini C, Bernardini L, Zuccarello D, Digilio MC, et al: Pure trisomy 19p syndrome in an infant with an extra ring chromosome. Cytogenet Genome Res 111:182-185 (2005).
5. sSMC derived from chromosome 19 (database on the Internet, update 2008 Mar 10; cited 2008 Mar 21). Available from http://www.med.unijena.de/fish/sSMC/ 19.htm#Start19
6. Unique - The Rare Chromosome Disorder Support Group (database on the Internet update 2008 Jan 21; cited 2007 May 7). Available from http://www.rarechromo.org