The clinical significance of marker chromosomes has remained obscure especially when diagnosed prenatally. Some carriers have terminated their pregnancies. Extensive attempts have been made to characterize these chromosomes whose origin is frequently difficult to ascertain. This brief summary presents an overview of the implications for fetal loss.

We report on a new chromosomal finding in a newborn male with hypertelorism, apparently low-set malformed ears with patent canal, micrognathia with narrow high-arched palate, bilateral webbing of neck with low posterior hairline, widely spaced nipples, and complex heart anomalies. Initially, what appeared to be a simple paracentric inversion of the long arm of chromosome 9, that is, 46,XY, inv(9)(q31q34) by routine GTG-banding technique was later determined to be a paracentric inversion with deletion of the band 9q34.1 by FISH technique using an abl unique sequence DNA probe. Thus the cytogenetic diagnosis was modified to 46,XY,der(9) inv(9)(q31q34.1)del(q34.1). Nevertheless, the presence of telomeric repeat sequences in the inverted chromosome 9 suggests that either healing has occurred by adding [TTAGGG]n sequences to the non-telomeric end (q31) by the enzyme telomerase or telomeric sequences were not affected during this inversion process. This abnormality is a rare occurrence and has never been reported before either because of a high rate of lethality or it has been undetected by routine cytogenetic techniques. The other abnormal cases with apparent paracentric inversions could also have a complex nature with congenital anomalies associated with loss of "few" DNA sequences as exemplified here.

No abstract

Chromosomal mosaicism during prenatal diagnosis has been a major concern. Nondisjunctional events can lead to mosaicism in a number of ways, including failure of chromosomal pairing, failure to separate, anaphase lag and abnormal segregation. We provide a concise review on various types of mosaicism with their clinical significance.

The enlarged short arm of chromosome 16 resulting in an additional euchromatic band has been regarded as a variant. We present an unreported case with an unusual variant of chromosome 16, where the mother and daughter both have an additional band (q 12.1) in the long arm. Its origin is chromosome 16, as revealed by FISH‐technique, and its familial nature suggests that it has no clinical significance.