four years his height was 80.5 cm (5th%), his weight was 9.32 kg (<5th%; 50th% for a 12 months), and he had a head circumference of 47.75 cm (25th%). He had epicanthic folds and one lightly pigmented spot, but no other abnormalities. A genome-wide SNP array identified an interstitial 28.5Mb region of homozygosity from chromosome 20p12.1to q13.13 spanning the centromere. Parental testing confirmed maternal origin of the UPD. Patient 4: Patient 4 was the male product of intrauterine insemination secondary to lack of spontaneous conception after two years. The pregnancy was complicated by IUGR, first noticed at 32 weeks gestational age, and decreased fetal movement towards the end of the pregnancy. He was born to his 43-year-old mother via caesarian section at 39 weeks gestation with a birth weight of 1960 grams (<3rd%, 50th% for 32 weeks gestation) and a length of 43 cm (<3rd%, 50th% for 32 weeks gestation). He was admitted to the Neonatal Intensive Care Unit (NICU) for poor weight gain and temperature instability. Due to when and he was “fatigue eating” “texture issues” placed on nasogastric tube feeds from the age one year until four years. Additional medical history was notable for a horseshoe kidney, a ventricular septal defect that closed spontaneously, mild asthma, egg allergies, and late eruption of his molar teeth. He also had generalized hypotonia with gross motor delays that placed him about six months behind on his milestones globally; he had normal brain magnetic resonance imaging at age six weeks. Neuropsychological testing was normal except for the gross motor delays. He did well in a regular classroom setting without additional help. At his last examination at age five years he weighed 21kg (75th%) and his height was 108cm (10th%). There were no dysmorphic facial features, but he had a bifid left second toe. A genome-wide SNP array identified an interstitial 40.80 Mb region of
four years his height was 80.5 cm (5th%), his weight was 9.32 kg (<5th%; 50th% for a 12 months), and he had a head circumference of 47.75 cm (25th%). He had epicanthic folds and one lightly pigmented spot, but no other abnormalities. A genome-wide SNP array identified an interstitial 28.5Mb region of homozygosity from chromosome 20p12.1to q13.13 spanning the centromere. Parental testing confirmed maternal origin of the UPD. Patient 4: Patient 4 was the male product of intrauterine insemination secondary to lack of spontaneous conception after two years. The pregnancy was complicated by IUGR, first noticed at 32 weeks gestational age, and decreased fetal movement towards the end of the pregnancy. He was born to his 43-year-old mother via caesarian section at 39 weeks gestation with a birth weight of 1960 grams (<3rd%, 50th% for 32 weeks gestation) and a length of 43 cm (<3rd%, 50th% for 32 weeks gestation). He was admitted to the Neonatal Intensive Care Unit (NICU) for poor weight gain and temperature instability. Due to “fatigue when eating” and “texture issues” he was placed on nasogastric tube feeds from the age one year until four years. Additional medical history was notable for a horseshoe kidney, a ventricular septal defect that closed spontaneously, mild asthma, egg allergies, and late eruption of his molar teeth. He also had generalized hypotonia with gross motor delays that placed him about six months behind on his milestones globally; he had normal brain magnetic resonance imaging at age six weeks. Neuropsychological testing was normal except for the gross motor delays. He did well in a regular classroom setting without additional help. At his last examination at age five years he weighed 21kg (75th%) and his height was 108cm (10th%). There were no dysmorphic facial features, but he had a bifid left second toe. A genome-wide SNP array identified an interstitial 40.80 Mb region of
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