PMC8417935_01
(A) Pedigree of the family. (B) The proband (III-4) shows scoliosis and mild facial dysmorphic features such as low forehead, slight hypertelorism, prominent nose, and wide lips. (C) The minor facial anomalies of the mother (II-1): maxillary hypoplasia, prominent nose, and pointed chin. (D) Face of the sister (III-3) with almost no dysmorphic features.
fped-09-664548-g0001.jpg
PMC8417935_02_fped-09-664548-g0001.jpg
F1
Detailed phenotype analysis of the family revealed speech difficulties among family members (Table 1; Figure 1A). She has some distinctive minor anomalies with maxillary hypoplasia, prominent nose, and pointed chin (Figure 1C). The other affected sister (III-3) of the proband, aged 25 years, has a borderline IQ (81) with nasal speech and almost no dysmorphic features (Figure 1D).
PMC8417935_02
(A) Pedigree of the family. (B) The proband (III-4) shows scoliosis and mild facial dysmorphic features such as low forehead, slight hypertelorism, prominent nose, and wide lips. (C) The minor facial anomalies of the mother (II-1): maxillary hypoplasia, prominent nose, and pointed chin. (D) Face of the sister (III-3) with almost no dysmorphic features.
fped-09-664548-g0001.jpg
PMC8417935_02_fped-09-664548-g0001.jpg
F1
Detailed phenotype analysis of the family revealed speech difficulties among family members (Table 1; Figure 1A). She has some distinctive minor anomalies with maxillary hypoplasia, prominent nose, and pointed chin (Figure 1C). The other affected sister (III-3) of the proband, aged 25 years, has a borderline IQ (81) with nasal speech and almost no dysmorphic features (Figure 1D).
(A) Result of chromosome microarray analysis. A 7.87 Mb deletion at chromosome 7q31.1q31.31 (109708675-117578862). Signal intensity is plotted on a log2 scale, the deleted segment is shown as a red bar. Allele differences confirm the deletion. (B) Schematic representation of the 7q22q32 chromosomal region with gene content based on the UCSC Genome Browser. Deleted regions reported in previous cases are represented as brown bars, and the deletion of our patients is depicted as a green bar. FOXP2 gene is highlighted by a red rectangle. The red dotted line shows that all reported deleted cases involve the FOXP2 gene. Genomic positions refer to build19.
fped-09-664548-g0002.jpg
PMC8417935_02_fped-09-664548-g0002.jpg
F2
The higher resolution microarray revealed a heterozygous 7.87 Mb deletion with the following breakpoints: arr[GRCh37] 7q31.1q31.31(109708675_117578862) x 1 (Figure 2A). Figure 2B shows the genome map of the 7q22-7q32 region depicting the previously reported deleted cases and result of this study.