PT  - JOURNAL ARTICLE
AU  - Petersen, M B
AU  - Vejerslev, L O
AU  - Beck, B
TI  - Trisomy 14 mosaicism in a 2 year old girl.
AID  - 10.1136/jmg.23.1.86
DP  - 1986 Feb 01
TA  - Journal of Medical Genetics
PG  - 86--88
VI  - 23
IP  - 1
4099  - http://jmg.bmj.com/content/23/1/86.short
4100  - http://jmg.bmj.com/content/23/1/86.full
SO  - J Med Genet1986 Feb 01; 23
AB  - Trisomy 14 mosaicism with 6% trisomic cells in blood and 16% in skin fibroblasts was found in a 2 year 2 month old girl with mild psychomotor retardation, craniofacial dysmorphism, pectus carinatum, curved fifth fingers, retarded bone age, and signs of an ASD. These findings are consistent with the previously reported cases of trisomy 14 mosaicism and support the suggested existence of a distinctive syndrome. Non-disjunction studies showed that the extra chromosome 14 originated from either a second paternal meiotic error or an early mitotic error.