QuestionSBA
QuestionChoice
This is mainly caused by expansion of the CGG trinucleotide sequence in the 5' UTR of the FMR1 gene on the X chromosome, not imprinting. It silences the FMR1 gene, causing learning difficulties, macrocephaly, a long face, and large ears.
10007009
d
Fragile X syndrome
QuestionChoice
This is caused by trisomy of chromosome 18, not imprinting. Clinical features include micrognathia, low-set ears, rocker bottom feet and overlapping of fingers.
10007010
e
Edward's syndrome
QuestionChoice
Down syndrome is caused by trisomy of chromosome 21, not imprinting. The clinical features include single palmar creases, upslanting palpebral fissures, epicanthic folds and small ears.
10007007
b
Down syndrome
QuestionChoice
This is caused by trisomy of chromosome 13, not imprinting. The clinical features are microcephaly, cleft lip/palate and scalp lesions.
10007008
c
Patau syndrome
QuestionChoice
Imprinting syndromes occur when one of the parental alleles is inherited but 'turned off' or 'stamped'. In PWS, there is deletion of the paternal copy of chromosome 15q11-q13, leading to language, motor and developmental delays, and excessive weight gain.
10007006
a
Prader-Willi syndrome
Concept
Chapter
2693
4557
Prader-Willi syndrome
Topic
156
Medical Genetics
13948
A 24-year-old female has become pregnant for the first time. At her booking visit, she asks about the chances of her baby being born with a genetic condition.

Which of the following is an imprinting syndrome?
a