PMC4179602_01
(A) Front and side views of case 1 at the age of 4 years. Note the short, broad, and webbing of the neck. (B) Anterior and posterior views of case 2 at the age of 61/2 years portraying mild ptosis, strabismus, and lordosis.
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No neurocutaneous markers were noted, and the genitalia was normal (Fig. 1a). She had no genital abnormalities (Fig. 1b).
(A) aCGH study shows 11.8-11.9 Mb deletion at 11q24.1q25 of encompassing JBS ie, arr 11q24.1q25(123,045,174-134,868,407)x1(hg19-GRCh37). (B) aCGH showed a 13.9-14 Mb deletion at 11q23.3q25 together with 7.3-7.6 Mb duplication at 12q24.32q24.33 ie, 46,XX,der(11)del(11)(q24), arr 11q23.3q25(121,000,318-134,868,407)x1, and 12q24.32q24.33(126,482,698-133,767,986)x3(hg19-GRCh37).
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Oligonucelotide array comparative genomic hybridization [aCGH] characterized the large deletion of 11.8-11.9 Mb size at 11q24.1q25 [arr cgh 11q24.1q25 (123,045,174-134,868,407)x1 (hg19-GRCh37)] (Fig. 2a). Oligonucleotide aCGH further confirmed a 13.9-14 Mb deletion at 11q23.3q25, but a relatively large 7.3-7.6 Mb duplication at 12q24.32q24.33 was also observed [arr cgh 11q23.3q25(121,000,318-134,868,407)x1, 12q24.32q24.33(126,482,69 8-133,767,986)x3 (hg19-GRCh37)] (Fig. 2b).