PMID- 10419257
OWN - NLM
STAT- MEDLINE
DCOM- 19991021
LR  - 20190822
IS  - 0803-5253 (Print)
IS  - 0803-5253 (Linking)
VI  - 88
IP  - 6
DP  - 1999 Jun
TI  - Partial trisomy 13q22-->qter and monosomy 18q21-->qter as a result of familial 
      translocation.
PG  - 675-8
AB  - We report on a patient with a partial trisomy of chromosome 13q22-->qter and 
      partial monosomy of chromosome 18q21-->qter showing distinct malformations. The 
      phenotype of this unbalanced karyotype has not been previously described. The 
      proband had a craniofacial dysmorphism, neck pterygium, closed fists with 
      overlapping fingers, cutaneous appendix of the left fist, equinovarus and 
      postaxial hexadactyly of the feet, atrial septum defect, unilateral 
      cryptorchidism and hypertrophic pyloric stenosis. Using fluorescence in situ 
      hybridization (FISH) the father's karyotype 46,XY.ish 
      t(13;18)(13pter-->13q22::18q21-->18qter; 18pter-->18q21::13q22-->13qter) and the 
      child's 46,XY.ish der(18)(18pter-->18q21::13q22-->13qter)pat were established. 
      The mother's karyotype was normal. A risk of unbalanced offspring in carriers of 
      a balanced reciprocal translocation depends on the length and genetic 
      constitution of the exchanged segments. Risk figures should come only from 
      empirical data. A phenotypically normal child with a balanced or normal karyotype 
      could be born in the case of alternate segregation. Amniocentesis should 
      therefore be recommended in any further pregnancy.
FAU - Cekada, S
AU  - Cekada S
AD  - Department of Pediatrics, University of Rijeka, Children's Hospital, Kantrida, 
      Istarska, Croatia.
FAU - Kilvain, S
AU  - Kilvain S
FAU - Brajenovic-Milic, B
AU  - Brajenovic-Milic B
FAU - Brecevic, L
AU  - Brecevic L
FAU - Kirincic-Paucic, E
AU  - Kirincic-Paucic E
FAU - Franulovic, J
AU  - Franulovic J
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Norway
TA  - Acta Paediatr
JT  - Acta paediatrica (Oslo, Norway : 1992)
JID - 9205968
SB  - IM
MH  - Abnormalities, Multiple
MH  - Chromosome Aberrations/genetics
MH  - Chromosome Disorders
MH  - Chromosomes, Human, Pair 13/*genetics
MH  - Chromosomes, Human, Pair 18/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Male
MH  - Monosomy/*genetics
MH  - Translocation, Genetic
MH  - Trisomy/*genetics
EDAT- 1999/07/27 00:00
MHDA- 1999/07/27 00:01
CRDT- 1999/07/27 00:00
PHST- 1999/07/27 00:00 [pubmed]
PHST- 1999/07/27 00:01 [medline]
PHST- 1999/07/27 00:00 [entrez]
AID - 10.1080/08035259950169387 [doi]
PST - ppublish
SO  - Acta Paediatr. 1999 Jun;88(6):675-8. doi: 10.1080/08035259950169387.