Background Oculo-auriculo-vertebral spectrum (OAVS) is the second most common cause
of head and neck malformations in children after orofacial clefts. OAVS is clinically …

Purpose Cytogenetic analysis provides important information for prenatal decision-making
and genetic counseling. Optical genome mapping (OGM) has demonstrated its …

In the interphase cell nucleus, chromosomes adopt a conserved and non-random
arrangement in subnuclear domains called chromosome territories (CTs). Whereas …

Duplications of the 3q29 cytoband are rare chromosomal copy number variations
(CNVs)(overlapping or recurrent~ 1.6 Mb 3q29 duplications). They have been associated …

Optical genome mapping (OGM) is an alternative to classical cytogenetic techniques to
improve the detection rate of clinically significant genomic abnormalities. The isolation of …

Background The translocation of SRY onto one of the two X chromosomes results in a 46,
XX testicular disorder of sex development; this is supposedly because of non‐allelic …

Telomeres protect chromosome ends and control cell division and senescence. During
organogenesis, telomeres need to be long enough to ensure the cell proliferation necessary …

Research question Is sperm fluorescence in-situ hybridization (FISH) useful to evaluate the
risk of chromosomally unbalanced gametes in interchromosomal reciprocal insertion (IRI) …

Background Microdeletions encompassing chromosome bands 2q14. 1q14. 3 are rare. To
date, eight reports of relatively large deletions of this region (∼ 20 Mb) but only two small …

Background Idiopathic central precocious puberty (ICPP) is supposed to be non-existent in a
context of testicular destruction that is typically present in Klinefelter syndrome (KS). Herein …