TY - JOUR
T1 - The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome
T2 - Report on two patients and review of the literature
AU - Raas-Rothschild, Annick
AU - Dijkhuizen, Trijnie
AU - Sikkema-Raddatz, Birgit
AU - Werner, Marion
AU - Dagan, Judith
AU - Abeliovich, Devorah
AU - Lerer, Israela
PY - 2009/3
Y1 - 2009/3
N2 - Nablus mask-like facial syndrome (NMFLS) is a rare microdeletion syndrome with a mask-like facial appearance as the most characteristic feature. In 2000, Teebi, was the first to report on a 4 years old boy affected with NMFLS. Since then two additional patients have been reported. Three years later, with the development of the array CGH technology, Shieh et al., elucidated the etiology of NMFLS by showing that the two patients studied share a ∼4 Mb microdeletion in the long arm of chromosome 8 (q21.3-q22.1). Here we report on two NMFLS patients among which the first patient described by Teebi in 2000, and present newly described clinical findings including the common happy behaviour of the children. Array CGH analysis of these two patients permitted to reveal a deletion in the same region, 8q21.3-q22.1. Combining the available literature and our data, we were able to narrow the common deleted region to 2.78 Mb (93.56-96.34 Mb) in 8q22.1. Direct relations between the clinical findings with (one of) the genes in the critical region have to await further studies on NFMLS patients with overlapping or smaller deletions.
AB - Nablus mask-like facial syndrome (NMFLS) is a rare microdeletion syndrome with a mask-like facial appearance as the most characteristic feature. In 2000, Teebi, was the first to report on a 4 years old boy affected with NMFLS. Since then two additional patients have been reported. Three years later, with the development of the array CGH technology, Shieh et al., elucidated the etiology of NMFLS by showing that the two patients studied share a ∼4 Mb microdeletion in the long arm of chromosome 8 (q21.3-q22.1). Here we report on two NMFLS patients among which the first patient described by Teebi in 2000, and present newly described clinical findings including the common happy behaviour of the children. Array CGH analysis of these two patients permitted to reveal a deletion in the same region, 8q21.3-q22.1. Combining the available literature and our data, we were able to narrow the common deleted region to 2.78 Mb (93.56-96.34 Mb) in 8q22.1. Direct relations between the clinical findings with (one of) the genes in the critical region have to await further studies on NFMLS patients with overlapping or smaller deletions.
KW - Blepharophimosis
KW - Chromosome 8q22.1
KW - Contractures
KW - Happy disposition
KW - Microdeletion
KW - Nablus mask-like facial syndrome
KW - Telecanthus
UR - http://www.scopus.com/inward/record.url?scp=67349150706&partnerID=8YFLogxK
U2 - 10.1016/j.ejmg.2009.03.011
DO - 10.1016/j.ejmg.2009.03.011
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C2 - 19328248
AN - SCOPUS:67349150706
SN - 1769-7212
VL - 52
SP - 140
EP - 144
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
IS - 2-3
ER -