Multiple critical smallest region of overlap in monosomy 16Q syndrome?
A 18 months old female child with a de novo 16q deletion is described. The clinical findings in this patient are similar to the phenotype first described by Fryns et al. (11) in 16q deletion. The present deletion involves the region 16q11.2-q12.2 suggesting a second critical smallest region of overlap (S.R.O.) more proximal to the centromere than the one previously located in 16q21.
Laboratory of cytogenetics, Reims, France.
M
M
Doco-Fenzy
J F
JF
Elchardus
G
G
Brami
B
B
Digeon
N
N
Gruson
J J
JJ
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D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002885:Chromosomes, Human, Pair 16; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005764:Gastroesophageal Reflux / Q000175:diagnosis / Q000235:genetics*; D006551:Hernia, Hiatal / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D007621:Karyotyping; D012886:Skull / Q000002:abnormalities*; D013933:Thumb / Q000002:abnormalities