PMC6540766_01
Facial dysmorphic features: Images of the proband showing wide forehead, cleft lip pallet, hypertelorism, flat nasal bridge (a), clubbed foot (b), along with omphalocele (c), and low set of ears (d)
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F1
The second pregnancy resulted in the birth of the proband, diagnosed with omphalocele along with various craniofacial anomalies, including cleft lip, wide forehead, flat nasal bridge, hypertelorism, and low set of ears [Figure 1a-d].
Pedigree analysis: Pedigree analysis of the proband up to the previous three generations. White symbol (square or circle) - a healthy person, white symbol (square or circle stroked through diagonally) - death of that individual, triangle - miscarriage, white symbol (blue colored and stroked diagonally) - proband
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F2
According to the pedigree analysis [Figure 2], none of the individuals in the previous generation had any history of recurrent spontaneous abortions or any history of neonatal death; therefore, it became quite clear to us that the origin of the balanced translocation was de novo in nature.
G-banding by trypsin and Giemsa stain banding chromosomal analysis: Both proband (a) and his father (b), karyotyping analysis reveals the presence of a balanced translocation of chromosomes 4 and 18 in the father, which has been inherited by the proband as an unbalanced partial trisomy 4(q-ter)
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F3
As per the ISCN 2016 guidelines, we report the proband karyotype as 47, XY, der(18), t(4;18)(q26-qter),+4 [Figure 3a, b]; the paternal karyotype was reported as 46, XY, der(18), t(4;18)(q26;q22) [Figures 3 and 4]; and the maternal karyotype was reported as 46, XX (data not shown). Multicolor fluorescence in situ hybridization was performed as described previously on freshly casted slides of metaphase chromosome of the father to confirm our karyotype finding on another molecular cytogenetic platform and also to rule out the presence of any other cryptic translocations which may not have been detected by general karyotyping [Figure 3b].
Multicolor fluorescence in situ hybridization: A stable balanced chromosomal translocation in the father of proband, detected by multicolor fluorescence in situ hybridization. Chromosomes involved in this translocation are indicated by arrows; a balanced chromosomal translocation is shown involving two chromosomes: 4 and 18
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F4
As per the ISCN 2016 guidelines, we report the proband karyotype as 47, XY, der(18), t(4;18)(q26-qter),+4 [Figure 3a, b]; the paternal karyotype was reported as 46, XY, der(18), t(4;18)(q26;q22) [Figures 3 and 4]; and the maternal karyotype was reported as 46, XX (data not shown).