Chromosomal Abnormalities

1p36 deletion

DD, seizures, microcephaly, limb abnormalities, midface hypoplasia, cardiac, hearing loss, clefts

2q37 deletion

v-shaped nasal tip, thin upper lip, smooth philtrum, auism, overwieight, short stature

Monosomy 4p (Wolf Hirschorn)

growth delay, microcephaly, cranial asymmetry, seizures, clubbed feet, simple ears, CHD (40%), greek warrior helmet facies

7q11.2 deletion (Williams-Beuren Syndrome)

heart, connective tissue, broad forehead, infantile hypercalcemia, ID, wide mouth, early puberty, musical talent, outgoing

Trichorhinophalangeal Syndrome II (Langer-Gideon) 8q24 deletion

cartilagenous extoses, large protruding ears, skeletal anomalies, skin laxity, malocclusion, sparse hair, winged scapulae, short stature

Aniridia Wilms Tumor Association

Wilms tumor, aniridia, genitourinary, DD, microcephaly, cataracts, blindness, growth delay

PAX6, WT1

Smtih-Magenis (17p11.2 deletion)

hypopigmentation, sleep disturbances, DD, ID, brachycephaly, upslanting palpebral fissures, short up-turned nose, tent upper lip

17p13.3 deletion (Miller-Dieker Syndrome)

Lissencephaly, bitemporal narrowing, protruding upper lip, DD, ID

Cat-Eye Syndrome (+47, invdup22q11.1)

coloboma of iris, downslanting palpebral fissures, anal atresia, mild DD, ear tags, CHD (1/3)

17q21.31 deletion syndrome

mild to moderate DD, severe hypotonia, confused with Angelman

Mosaic Trisomy 8

deep furrows in hands/feet, single palmar crease, almost Marfanoid habitus, renal issues, mild-severe DD, hypertelorism, thick lips, deep set eyes

Mosaic Trisomy 9

joint contractures, CHD, low-set malformed ears, facial asymmetry, hypotonia, variable DD

Mosaic Trisomy 20

pigmentary findings, DD (mild-normal), spinal abnormalities, hypotonia, lifelong constipation, sloped shoulders. URINE SAMPLE