Question

Write down incidence, clinical features, genotype and counseling of Patau's syndrome.​

Answer 1

★ Patau's Syndrome :

1. Incidence : Most of these teisomies lead to spontaneous abortion.

• The incidence among the live-birth is 1 in 5000.
• Most of the affected children die within a month.

2. Clinical features :

→ Affected children are physically and mentally retarded.

→ They have small skull and eyes.

→ They may have cleft lip and cleft palate.

→ They may born with extra finger or malformed thumb.

→ Malformations of CVS, CNS and excretory systems are common.

3. Genotype : Trisomy of chromosome 13.

• Mosaicism and robertsonian translocation are observed in rare cases.

4. Councelling :

→ There is a small risk of recurrence

→ Incidence increases with advanced maternal age$.$