Chromosomal Analysis
by Husna Jalia Nakitende
1. The pro-band showed open fontanelle, microcephally, flat occiput, slanting palpebral fissures, hypertelorism low set ears, thick furrowed potruding tongue,open mouth, hypotonia, short broad hand,gap between 1st and 2nd toes and plantar furrow.
2. He is the second born child of an unrelated couple, 42 year old mother. Born following a normal gestation and delivery.Couple has a healthy 1.5 year old son.
3. Chromosomal analysis carried out in proband, parents, and normal sibling and karyotyping was done according to ISCN 2016.
4. Chromosomal analysis of proband revealed 47,XY,+21 with no evidence of mosaicism. Parental and normal sibling's karyotypes were found to be normal.
