Paracentric inversion of chromosome 12 in myelodysplasia

Familial paracentric inversion of chromosome 15 (q15q24).

A paracentric inversion of chromosome 15 was observed in the father of two infants who died 29 days and 24 hours, respectively, after birth. The same inversion was found in two sisters of the proband.

De novo paracentric inversion in an X chromosome.

A 10 1/2 year old female with skeletal abnormalities was referred for genetic consultation because of learning disabilities and a suggestion of 'Turner-like' stigmata. Cytogenetic analysis revealed a paracentric inversion of an X(q13.1q26.1) chromosome.

Pregnancy wastage associated with paracentric inversion of chromosome 13.

Chromosome 18q paracentric inversion in a family with mental retardation and hearing loss.

We report on a mother and child with a paracentric inversion of the long arm of chromosome 18: 46,XX,inv(18)(q21.1q23). The child had findings in common with those seen in 18q- syndrome including: microcephaly, epicanthal folds, midface hypoplasia, and abnormally modeled ears, dermatoglyphic whorls on fingertips, clubfeet, hearing loss, and developmental delay. The mother and several maternal r...

Not para-, not peri-, but centric inversion of chromosome 12.

A 39 year old male with primary infertility was diagnosed as having Klinefelter syndrome by conventional cytogenetic analysis, which also showed an abnormal chromosome 12. Fluorescence in situ hybridisation (FISH) analysis of the aberrant chromosome using a 12 specific centromeric probe showed a break in the alphoid repeats followed by an inversion within the short arm, resulting in a pseudodic...