Complex rearrangements of chromosome 15 in two patients with MILD/ATYPICAL Prader Willi syndrome

Genetic Counseling

Volumn 19, Issue 2, 2008, Pages 219-224

  Salavoura, K ^a   Kolialexi, A ^a   Sofocleous, C ^a   Kalaitzidaki, M ^a   Pampanos, A ^a   Kitsiou, S ^a   Mavrou, Ariadni ^a,b  

^a UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^b AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

Author keywords

Complex UPD; Prader Willi syndrome

Indexed keywords

MICROSATELLITE DNA;

ARTICLE; CASE REPORT; CHROMOSOME 15; CHROMOSOME 15Q; CHROMOSOME REARRANGEMENT; GENE DELETION; HUMAN; HUMAN CELL; INFANT; INHERITANCE; MALE; PHENOTYPE; PRADER WILLI SYNDROME; UNIPARENTAL DISOMY;

ADULT; CHROMOSOMES, HUMAN, PAIR 15; CYTOGENETIC ANALYSIS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; PRADER-WILLI SYNDROME; UNIPARENTAL DISOMY;

EID: 46949101344     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (7)

1. ALTUG-TEBER O., DUFKE A., POTHS S., MAU-HOLZMANN U.A., BASTEPE M., COLLEAUX L., CORMIER-DAIRE V., EGGERMANN T., GILLESSEN-KAESBACH G., BONIN M., RIESS O.: A rapid microarray based whole genome analysis for detection of uniparental disomy. Hum. Mutat., 2005, 26, 153-159.
2. KOTZOT D.: Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements. J. Med. Genet., 2001, 38, 497-507.
3. KUBOTA T., DAS S., CHRISTIAN S.L., BAYLIN S.B., HERMAN J.G., LEDBETTER D.H.: Methylation specific PCR simplifies imprinting analysis. Nat. Genet., 1997, 16, 16-17
4. NAZARENKO S., SAZHENOVA E., BAUMER A., SCHlNZEL A.: Segmental maternal heterodisomy of the proximal part of chromosome 15 in an infant with Prader-Willi syndrome. Eur. J. Hum. Genet., 2004, 12, 411-418
5. PROCTER M., CHOU L.S., TANG W., JAMA M., MAO R.: Molecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification. Clin Chem., 2006, 52, 1276-1283
6. SALAVOURA K., SOFOKLEOUS C., MAVROU A. KALAITZIDAKI M., FRYSSIRA H., KOLIALEXI A., YAPITZAKIS C.H., ZAFIRIOU D., METAXOTOU C.: Prader-Willi and Angelman syndrome in the Greek population: a clinical and molecular study. Balkan J. Med. Genet., 2003, 6, 21-32.
7. TOTH-FEJEL S., OLSON S., GUNTER K., QUAN F., WOLFORD J., POPOVICH B., MAGENIS E.: The impact of imprinting: Prader-Willi syndrome from chromosome translocation, recombination, and nondisjunction. Am. J. Hum. Genet., 1996, 58, 1008-1016