Genetics

Question 1

What is trisomy 21 and what is it associated with?

Answer 1

Down syndrome

Learning disability
Congenital heart disease
Hypothyroidism
Immunity and Early onset Alzheimer’s disease

Question 2

What features are considered in description of a dysmorphic child?

Answer 2

Position and shape of facial features

Hands

Growth of child

General features

Question 3

What is an exome?

Answer 3

Just the genes that are used in production of proteins, not the entire genetic sequence

Question 4

What features of the head are considered in a dysmorphic child?

Answer 4

Shape
Size; macrocephaly, microcephaly
Ear position; low set, posteriorly rotated indicates lack of maturity

Question 5

What features of the eyes are considered in a dysmorphic child?

Answer 5

Hypertelorism
- inner canthal distance (ICD) and inter-pupillary distance (IPD) increased

Telecanthus/epicanthic folds
- ICD increased and IPD normal

Question 6

What features of the hand are considered in a dysmorphic child?

Answer 6

Finger length
Digital abnormalities
Palmar creases

NORMAL hand length; MF/THL is usually <44%

Question 7

What is polydactyly?

Answer 7

Extra fingers

Question 8

What is syndactyly?

Answer 8

Fused fingers

Question 9

What is polysyndactyly?

Answer 9

combination syndactyly and polydactyly

Question 10

What is acrocephalopolysyndactyly?

Answer 10

tall head/forehead
+ polysyndactyly

Greig syndrome

Question 11

What is Pierre-Robin sequence?

Answer 11

Small chin causing cleft palate

Question 12

What is fetal akinesia sequence?

Answer 12

Reduced foetal movement causes abnormalities

• reduced breathing
• contractures
• clefting
• lung hypoplasia

Question 13

What is an association (VATER association)?

Answer 13

Two features or more occurring together more often than expected by change

Mechanism unclear

Vertebral anomalies
Ano-rectal atresia
Tracheo-Esophogeal
Radial anomalies

Question 14

What is a syndrome?

Answer 14

Distinct group of symptoms and signs which, associated together, form a characteristic clinical picture or entity

Cause may or may not be known

Question 15

describe features of turner syndrome

Answer 15

45, X

Lymphoedema - puffy feet, nuchal translucency/cystic hygroma

Increased carrying angle, low hairline, wide set nipples, sandal gap

Short stature, occ v mild learning difficulty

Coarctation aorta, hypothyroidism, UTI, osteoporosis, hypertension

Primary amenorrhoea and infertility

Hormonal therapy migrates some features

Question 16

Describe features of 22q11 deletion syndrome

Answer 16

Cleft palate
Abnormal facies
Thymic hypoplasia/immune deficiency
Calcium
Heart problems

CATCH22