A pericentric inversion duplication of the subcentromeric region of chromosome 12q.

Abstract

Short reports A pericentric inversion duplication of the subcentromeric region of chromosome 12q The proband, a 1 year old girl, was referred because of dysmorphic features and developmental delay. There was no family history of congenital abnormalities and the mother had received no drugs during her pregnancy. The mother was 25 and the father 26 years old at the time of the birth. The pregnancy was normal and the birth uncomplicated. She learnt to sit at 3 months and to crawl at 5 months. She now walks unaided, yet she does not talk or make any sounds. She appears to understand what is said to her. The only abnormalities are a large protruding tongue and epicanthic folds. Cultured peripheral lymphocytes were used for chromosomal analysis with GTG and R banding. All 15 cells examined showed an elongation of the short arm of one of the chromosomes 12. This was evaluated in the G banded slides as an inverted duplication in the short arm of the immediate subcentromeric region of the long arm: dup(12p)(qll-ql2) (figure). The chromosomes of both parents were normal.

De novo pure 12q22q24.33 duplication: First report of a case with mental retardation, ADHD, and Dandy‐Walker malformation

“…In the majority of patients, the anomalous chromosomes were the unbalanced products of a parental translocation involving the 12q arm and a second chromosome. In four patients, the duplicated products of a familial pericentric inversion were seen [Albert et al, 1986], while six cases were described as pure duplications of different regions [Harrod et al, 1980;Ieshima et al, 1984;Dixon et al, 1993;Houfflin et al, 1993;El-Shanti et al, 1997;Ireland et al, 2004].…”

Reassessment of a chromosome 12q + marker by fluorescent in situ hybridization (FISH)

“…There are, however, several reports of partial unbalanced trisomy 12q (Harrod et al 1980, de Muelenaere et al 1980. 1981, Zabel & Bauman 1981, Albert et al 1986). The similarities in appearance, specific anomalies, and developmental pattern of those patients and those reported by Hobolth et al (1974) and Hemming & Brown (1979) suggest that duplication of the 12q24 region results in a clinically identifiable syndrome.…”