Familial Study of Paracentric Inversion in Chromosome 3p
نویسندگان
چکیده
منابع مشابه
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.
متن کاملDe 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.
متن کاملChromosome 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...
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ژورنال
عنوان ژورنال: British Journal of Medicine and Medical Research
سال: 2016
ISSN: 2231-0614
DOI: 10.9734/bjmmr/2013/2170