A case of an infertile male with a small supernumerary marker chromosome negative for M-FISH and containing only heterochromatin

Abstract

Aim To describe the case of a 32-year-old infertile male with small supernumerary marker chromosome (sSMCs) in 80% of peripheral lymphocytes. Methods G-banding, C-banding, STRP analysis, M-FISH and molecule diagnosis of Y-chromosomal microdeletions were performed to determine the origin of sSMCs.

Small supernumerary marker chromosome (sSMC) derived from chromosome 22 in an infertile man with hypogonadotropic hypogonadism

“…In addition, there are also two unpublished cases of supernumerary inv dup(22)(q11.1) in normal males with fertility problems (cases from Ehresmann and Petersen, from the electronic database by Liehr et al 2004). Our patient is another infertile oligoasthenoteratozoospermic man, and coincides with the literature data that the acrocentric sSMC has a causative role in male infertility, and its presence is more frequently associated with oligozoospermia (7%) and less with azoospermia (<1%) (Mau-Holzmann 2005; Wang et al 2009). …”

Hypogonadotropic hypogonadism associated with another small supernumerary marker chromosome (sSMC) derived from chromosome 22, a case report

“…22q11 duplication syndrome has an incomplete appearance, and the patient's phenotype varied from normal, almost normal to multiple defects, mild learning difficulties, and shared features with DiGeorge/velocardiofacial syndromes (DGS/VCFS), including heart defects, velopharyngeal insufficiency with or without cleft palate, or hypernasal speech, and urogenital abnormalities (10,11). Our patient who carried a sSMC also had retarded puberty, bilateral cryptorchidism, and microphallus as a primary symptom, which coincides with the literature data that the acrocentric sSMC has a causative role in male HH, and its presence is more frequently associated with oligozoospermia (7%) and less with azoospermia (<1%) (12).…”