Aneuploidy

TURNER SYNDROME

urner synd: in foetus, presents with cystic hygroma, webbed neck, puffiness of hand and feet

TRISOMY 18

ABNORMALITIES Seen  IN more than 50% cases:

General.
Feeble cry, lethargic
 premature,or postmature;
polyhydramnios,
IUGR;
deficient skeletal muscle, subcutaneous and adipose tissue;
mental retardation.
Craniofacial.
Prominent occiput,
 narrow bifrontal diameter;
low-set, malformed auricles;
short palpebral fissures; small oral opening,
Narrow palatal arch;
Micrognathia.

Hands and Feet.
Clenched hand, tendency for overlapping of index finger over third, fifth finger over fourth;
 absence of distal crease on fifth finger with or without distal creases on third and fourth fingers;
 low-arch dermal ridge pattern on six or more fingertips;
 hypoplasia of nails, especially on fifth finger and toes;
short hallux, frequently dorsiflexed.

Thorax.
Short sternum, with reduced number of ossification centers; small nipples.

Abdominal Wall.
Inguinal or umbilical hernia and/or diastasis recti.

Pelvis and Hips.
Small pelvis, limited hip abduction.
Genitalia.
Male: cryptorchidism.

Skin. Redundancy, mild hirsutism of forehead and back, prominent cutis marmorata.
Cardiac. Ventricular septal defect, auricular septal defect, patent ductus arteriosus.