Follow-up of a patient with partial trisomy 9p and partial monosomy 8p; Description of physical and psychosocial development

Genetic Counseling

Volumn 7, Issue 1, 1996, Pages 61-65

  Ausems, M G E M ^a   Van Spijker, H G ^a   Dijkhuis, H J ^a,b   Swanenburg De Veye, H F N ^c   Bijlsma, J B ^a  

^a Clinical Genetics Center Utrecht   (Netherlands)

^b De Lichtenberg   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

Follow up study; Mental retardation; Partial trisomy 9p; Psychomotor development

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 8P; CHROMOSOME 9P; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; FOLLOW UP; HUMAN; MALE; MENTAL DEFICIENCY; MOTHER; PARTIAL MONOSOMY; PARTIAL TRISOMY 9; PSYCHOMOTOR DEVELOPMENT;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 8; CHROMOSOMES, HUMAN, PAIR 9; FOLLOW-UP STUDIES; HUMANS; INFANT; INFANT, NEWBORN; MALE; MENTAL RETARDATION; MONOSOMY; PHENOTYPE; PSYCHOMOTOR DISORDERS; SYNDROME; TRANSLOCATION, GENETIC; TRISOMY;

EID: 0029970648     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (11)

1. BIJLSMA J.B., KLEP-DE PATER J.M., DE FRANCE H.F., ALKEMA F.M.J. and BLEEKER-WAGEMAKERS E.M.: The partial trisomy 9p syndrome. T. Kindergeneesk., 1981, 49, 125-131.
2. BUSSANI MASTELLONE C., GIOVANNUCCI UZIELLI M.L., GUARDUCCI S., NATHAN G.: Four cases of trisomy 9p syndrome with particular chromosome rearrangements. Ann. Genet., 1991, 34, 115-119.
3. CENTERWALL W.R., MILLER K.S. and REEVES L.M.: Familial «partial 9p» trisomy: six cases and four carriers in three generations. J. Med. Genet., 1976, 13, 57-61.
4. CUOCO C., GIMELLI G., PASQUALI F., POLONI L., ZUFFARDI O., ALIEATA P., BALLAGLINO G., BERNARDI F., CERONE R., COTELLESSA M., GHIDONI A. and MOTTA S.: Duplication of the short arm of chromosome 9. Analysis of five cases. Hum. Genet., 1982, 61, 3-7.
5. HUTCHINSON R., WILSON M. and VOULLAIRE L.: Distal 8p deletion (8p23.1 →-8pter): a common deletion? J. Med. Genet., 1992, 29, 407-411.
6. JACOBSEN P., HOBOLTH N., MIKKELSEN M.: Trisomy 9p in a patient with a de novo 9/15 transiocation. Clin. Genet., 1975, 7, 317-324.
7. LEWANDOWSKI R.C., YUNIS J.J., LEHRKE R., O'LEARY J., SWAIMAN K.F. and SANCHEZ O.: Tnsomy for the distal half of the short arm of chromosome 9. A variant of the trisomy 9p syndrome. Am. J. Dis. Child., 1976, 130, 663-667.
8. RETHORÉ M.O., LARGET-PIET L., ABONYID D., BOESWILLWALD M., BERGER R., CARPENTIER S., CRUVEILLER J., DUTRILLAUX J., LAFOURCADE J., PENNEAU M. and LEJEUNE J.: Sur quatre cas de trisomie pour le bras court du chromosome 9. Individualisation d'une nouvelle entité morbide. Ann. Genet., 1970, 13, 217-232.
9. SCHINZEL A.: Trisomy 9p, a chromosomal aberration with distinct radiologic findings. Radiol., 1979, 130, 125-133.
10. SMART R.D., VILJOEN D.L. and FRASER B.: Partial trisomy 9 - further delineation of the phenotype. Am. J. Med. Genet., 1988, 31, 947-951.
11. WILSON G.N., RAJ A. and BAKER D.: The phenotypic and cytogenetic spectrum of partial trisomy 9. Am. J. Med. Genet., 1985, 20, 277-282.