Report of an abnormal chromosome 10 in a patient with Dysmorphism and Congenital Heart Defect(CHD)

Chromosomal abnormalities can contribute to dysmorphism and congenital heart defects. Both numerical and unbalanced structural chromosome abnormalities can lead to these anomalies. The unbalanced structural abnormalities can be generated due to recombinant product of pericentric inversion in one of the parents during gametogenesis.PATIENT AND METHODS: The current study presents the case of a three- month- old female child with dysmorphic features and congenital heart defects(CHD). The clinical features of the patient included Congenital Heart Defect, Hirsutism, Small Nose, Simple Ear, Snadle gap, Micrognathia, Long Filtrum and IUGR. Chromosomal analysis was carried out using T lymphocytes and standard cytogenetics techniques. 20 metaphase spread were studied using high resolution GTG banding technique.RESULTS AND DISCUTION: Cytogenetic analysis revealed a karyotype of 46,XX,add(10)(q26.1) in the child. Parental karyotyping was requested in order to determine the origin of this abnormality. Chromosomal analysis revealed a karyotype of 46,XY,inv(10)(p11.2q26.3) in the father and a karyotype of 46,XX in the mother. Pericentric inversion of chromosome 10 can give rise to recombinant chromosomes by duplication and deletion of 10p and 10q. Chromosomal analysis in this child revealed a karyotype of 46,XX,rec(10)dup(10p)inv(10)(p11.2q26.3)pat. Several defects had been reported to be associated with gene mutations/deletions within 10q, such as ectrodactyly (split hand/split foot malformation) at locus 10q24-10q25. A multiple gene locus study of 10q reported multiple defects.CONCLUSION: Cytogenetic investigation for patients with dysmorphism and CHD is strongly recommended. Use of Array-CGH is further recommended if the Karyotype is normal.

کلیدواژه ها:

Chromosome 10 ، pericentric inversion ، Recombinant product ، Congenital heart defect ، Dysmorphism