PMC4654821_01
Clinical features of proband. a. Clinodactyly of fifth finger of hand of our patient b. Telechantus, pinchnose, dysplastic ears c. Mild syndactyly between 2. and 3.fingers of feet d. Sydney line in palm of hand
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Fig1
Dysmorphology assessment revealed frontal bossing, telecanthus, down slanting and short palpebral fissures, dacryostenosis, hypertelorism, depressed nasal root, pinch nose, fish mouth, low set ears, syndney line on hands bilaterally, protruding tongue, clinodactyly of fifth fingers, syndactyly of second and third toes bilaterally, anteverted nostrils (Fig. 1).
Pedigree analysis of family. Proband (46,XX,rec(14)dup(14q)inv(14)(p11.2q24) are shown as filled black symbols (III.3) whereas inversion carriers (46,XX,inv(14)(p11.2q24) are shown as dot-filled symbols (III.2, II.5, II.6, II.8,II.10,I.4). Males are shown as squares and females as circles
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Fig2
We performed G-banded chromosomal analysis of proband (Fig. 2. pedigree number III.3) and it revealed 46,XX,add(14)(p10) karyotype (additional material on the short arm of chromosome 14) in 20 analyzed metaphases (Fig. 3a). Proband's father had normal 46,XY karyotype (Fig. 2. pedigree number II.4) yet mother's chromosome analysis revealed a pericentric inversion of chromosome 14 (Fig. 2. pedigree number II.5). Her sister's karyotype (Fig. 2. pedigree number III.1) was normal but her brother's karyotype (Fig. 2. pedigree number III.2) was 46,XY,inv(14)(p11.2q24). We detected that the mother, mother's sisters and the brother are also carrier for the same pericentric inversion of chromosome 14 (Fig. 2).
Cytogenetic analysis. a. Karyotype analysis of proband with derivative chromosome 14 (46,XX,rec(14)dup(14q)inv(14)(p11.2q24)mat). b. Karyotype analysis of proband's mother with pericentric inversion of chromosome 14 (46,XX,inv(14)(p11.2q24))
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Fig3
We performed G-banded chromosomal analysis of proband (Fig. 2. pedigree number III.3) and it revealed 46,XX,add(14)(p10) karyotype (additional material on the short arm of chromosome 14) in 20 analyzed metaphases (Fig. 3a). Her karyotype was 46,XX,inv(14)(p11.2q24) (Fig. 3b).
CGH array. CGH array profile of derivative chromosome 14 indicating a duplicated region of chromosome 14q
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Fig4
CGH array analysis of proband showed a segment duplicated between 14q24.1qtel region with approximately 43.5 Mb (breakpoints: 64,800,000-108,350,000). (Fig. 4).