PMC5883343_01
a Three-generation pedigree of the family with the proband (III-3) indicated by an arrow. Affected individuals are indicated with black, horizontal or vertical lines in the symbols, including III-3: monosomy 1q43-q44 and III-4: trisomy 1q43-q4; carriers of the cryptic insertion (II-5, III-2) are indicated with dots in the symbols. G-banding analysis was not performed for the elder brother (III-1) due to a lack of sample. b and c Facial profiles of the proband and younger brother at 6 years and 3 months, respectively. The proband presented with microcephaly, and the younger brother presented with macrocephaly. d G-banding analysis of the proband (III-3) at a band resolution of ~400 showed no visual abnormal karyotype. e The results of SNP-array analysis. The proband (III-3) harbuored an interstitial 1q43-q44 deletion (upper), and the younger brother (III-4) carried an interstitial 1q43-q44 duplication (down). The deletion and duplication regions are indicated by red arrows. f The FISH results for the mother (II-5) with WCP1/14 (left) and WCP1/CEP14 (right) probes. Chromosome 1 is shown in green, and the chromosome 14 is shown in red (left); WCP1 and CEP14 are shown in green and red, respectively (right). The inserted segment is indicated by the white arrows
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Fig1
The proband (III-3, Fig. 1a) is the third child of a non-consanguineous, healthy couple. At 6 years of age, the proband presented with microcephaly (47.2 cm, <- 2 SD) and began learning to walk but could not speak (Fig. 1b). The elder brother (III-1, Fig. 1a) presented similar features to the proband, such as developmental delay, cerebral palsy and intracranial haemorrhage after birth, and died at 5 years of age. The elder sister (III-2, Fig. 1a) has a normal phenotype. The younger brother (III-4, Fig. 1a) is the fourth child. At the age of 3 months, he presented macrocephaly (Fig. 1c) and his head circumference was 44.5 cm (> + 2 SD).