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Fichera et al. J Transl Genet Genom 2020;4:114-32 I http://dx.doi.org/10.20517/jtgg.2020.16 Page 119
Figure 1. Front and lateral views of individuals with the 1q deletion. On facial profile Case 2, aged three years (A) and Case 3, aged seven
years (B), ears appear low-set and posteriorly rotated with mild malar hypoplasia and microcephaly
Figure 2. Hands of subjects with the 1q deletion. Small hands with distinctive brachydactyly, single transverse palm creases and fifth-
finger clinodactyly are evident in Case 2 (A) and Case 3 (B). In contrast, the hands of Case 5 appear normal apart from mild hyperlaxity
(C)
features and hypotonia were noted. A diagnosis of Aarskog syndrome was suggested but not confirmed by
the molecular analysis of FDG1gene. He had a normal karyotype, 46,XY.
His medical history was positive for failure to thrive and psychomotor delay. He started to walk
unsupported at the age of three years and never developed verbal language. At the age of four years, he
underwent surgical correction for unilateral cryptorchidism. At the last evaluation at the age of seven years,
