Prenatal diagnosis of inherited satellited non-acrocentric chromosomes

Abstract

We report on the prenatal diagnosis of two sib female fetuses with a satellited short arm of chromosome 4 and a male fetus with a satellited long arm of chromosome X. The first two fetuses had a cryptic balanced translocation (4;15)(p16;p11.1) inherited from a mother carrying a satellited 4p and having an affected child with the Wolf-Hirschhorn syndrome. The third fetus had a satellited Xq, with a deletion of subtelomeric region of Xq. The mother was subsequently found to have the same satellited Xq but without the presence of a reciprocal translocation. She decided to continue the pregnancy. The proband with a satellited Xq manifested developmental delay, mental retardation, hypertelorism, ptosis of one eye, low-set ears, and hearing disturbance at age 6 months. Fluorescence in situ hybridization (FISH) with a specific telomeric or subtelomeric probe, and genetic marker analyses were used to confirm the diagnosis. Pregnant women with satellited non-acrocentric chromosomes are at risk for carrying fetuses with chromosome abnormalities. If the X chromosome is involved, the fetuses can be affected with X-linked recessive disorders including mental retardation. Detailed genetic counselling, cytogenetic studies, FISH and genetic marker analyses are useful in prenatal detection of abnormal chromosome rearrangements.