Who first described this genetic disorder, and what year?
Does this disorder have a common name, for example, like Down Syndrome, Marfan Syndrome, Usher Syndrome?
Answer :
Caused by a terminal deletion of the most distal band of the short arm of chromosome 1, monosomy 1p36 is the most commonly observed terminal chromosomal deletion, occurring in approximately 1 in 5,000 births (Shaffer and Lupski 2000; Heilstedt et al. 2003b). As first described by the Shaffer lab in 13 subjects (Shapira et al. 1997), craniofacial characteristics of this contiguous gene deletion syndrome (CGDS)--so-called because it involves the deletion of multiple adjacent genes on the same chromosome arm--include late-closing, large anterior fontanels (membranous intervals at the intersection of the cranial bones at the crown of the skull), brachycephaly (disproportionate shortness of the head), deep-set eyes, flat nasal bridge, asymmetric ears, and pointed chin. Monosomy 1p36 is also associated with mental retardation, developmental delay, hearing impairment, seizures, growth impairment, and heart defects (Shapira et al. 1997; Slavotinek et al. 1999; Heilstedt et al. 2003a). Over 90 subjects with rearrangements of 1p36 have enrolled in our studies, of which 61 were recently published (Heilstedt et al. 2003a). The deletion sizes in the subjects vary considerably (Wu et al. 1999; Heilstedt et al. 2003a); however, there is some uniformity in the origin of the deletions, with over 60% being maternally derived (Wu et al. 1999; Heilstedt et al. 2003a). Candidate genes have been proposed for some of the individual features of monosomy 1p36, including seizures (Heilstedt et al. 2001) and facial clefting anomalies (Colmenares et al. 2002).
The Shaffer laboratory has recently identified possible mechanisms for the generation and/or stabilization of terminal deletions of 1p (Ballif et al. 2003; Ballif et al. 2004a; Ballif et al. 2004b; Gajecka et al. 2005). In addition, the Shaffer laboratory has recently demonstrated the use of microarrays--a rapid, sensitive, and high-resolution technology for the detection of many chromosomal anomalies--in the detection of deletions of 1p36 (Yu et al. 2003).
check this article
Shapira SK, McCaskill C, Northrup H, Spikes AS, Elder FF, Sutton VR, Korenberg JR, Greenberg F, Shaffer LG (1997) Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. Am J Hum Genet 61:642-650