PMC7273683_01
The pedigree (a) of a Chinese family affected by intellectual disability and facial features of the proband (b). The facial features of the proband (III-1) included a prominent forehead; flat face; flat nasal bridge and a short upturned nose; thin lips; and small ears
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PMC7273683_01_13039_2020_483_Fig1_HTML.jpg
Fig1
She had facial dysmorphism including a prominent forehead; flat face; flat nasal bridge and a short upturned nose; thin lips; and small ears (Fig. 1).
The SNP-array results of tested members from the Chinese family affected by intellectual disability. The proband (III-1), her father (II-2) and the fetus (IV-1) all contain a 936.3 kb heterozygous deletion of chromosome 1q22 (arr[GRCh37] 1q22 (155016052_155952375)x1). No significant CNVs were identified in the proband's mother (II-1), grandparents (I-1 and -2) and paternal uncle II-3
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PMC7273683_01_13039_2020_483_Fig2_HTML.jpg
Fig2
However, CMA using the CytoScan 750 K Array from Affymetrix (Thermo Fisher Scientific, USA) revealed a 936.3 kb heterozygous deletion of chromosome 1q22 (arr[GRCh37] 1q22 (155016052_155952375)x1) in the proband (Fig. 2).