Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes
نویسندگان
چکیده
Pericentric inversion of chromosome 4 can give rise to recombinant chromosomes by duplication or deletion of 4p. We report on a familial case of Wolf-Hirschhorn Syndrome characterized by GTG-banding karyotypes, FISH, and array CGH analysis, caused by a recombinant chromosome 4 with terminal 4p16.3 deletion and terminal 4q35.2 duplication. This is an aneusomy due to a recombination which occurred during the meiosis of heterozygote carrier of cryptic pericentric inversion. We also describe the adulthood and prenatal phenotypes associated with the recombinant chromosome 4.
منابع مشابه
Goldenhar Syndrome and Pericentric Inversion of Chromosome 9
Oculo-auriculovertebral dysplasia (Goldenhar) is a congenital syndrome. Its phenotype differs from craniofacial anomalies to cardiac, vertebral or central nervous system defects. This syndrome is rare and its etiology is not apparent yet. Pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal aberrations with its incidences 15% to 25%. Herein we present ...
متن کاملFamilial pericentric inversion (13) detected by antenatal diagnosis.
A recombinant rec (13), dup q chromosome was diagnosed in a 17-week fetus following amniocentesis. Subsequently, a familial pericentric inversion of chromosome 13 was seen to be segregating in the family and the same recombinant 13 was present in a mentally retarded aunt of the fetus. The clinical features of the carriers of the inversion product are discussed with reference to previous cases.
متن کاملFamilial Wolf-Hirschhorn syndrome resulting from a cryptic translocation: a clinical and molecular study.
We present three cousins who have normal karyotypes, despite having clinical features of Wolf-Hirschhorn syndrome. Fluorescence in situ hybridisation techniques confirmed that all three relatives were monosomic for the distal short arm of chromosome 4 and that a cryptic translocation involving chromosomes 4 and 11 was segregating within the family. Segregation analysis indicated that the risk o...
متن کاملFamilial pericentric inversion (10) and its effect on two offspring.
A pericentric inversion (10)(p15q24) was observed in three generations of a family. One daughter of the inversion carrier was found to have the inv(10) and trisomy 18. The other offspring had a recombinant (10) chromosome.
متن کاملInv21p12q22del21q22 and intellectual disability.
Chromosomal rearrangements are common in humans. Pericentric inversions are among the most frequent aberrations (1-2%). Most inversions are balanced and do not cause problems in carriers unless one of the breakpoints disrupts important functional genes, has near submicroscopic copy number variants or hosts "cryptic" complex chromosomal rearrangements. Pericentric inversions can lead to imbalanc...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره 2013 شماره
صفحات -
تاریخ انتشار 2013