7p22.1 microduplication syndrome

7p22.1 microduplication syndrome
Other names: Trisomy 7p22.1
a) Left palmar creases bridged to form one and distal extends to 2-3 interspace b) right distal palmar crease extends to the 2-3 interspace.
Specialty	Medical genetics
Symptoms	intellectual disabilities, speech and motor delay, facial dysmorphisms
Usual onset	Birth
Duration	Life-long
Causes	Duplication of the p22.1 region in chromosome 7

7p22.1 microduplication syndrome (also called Trisomy 7p22.1) is a genetic disorder which is characterized by cranial and facial dysmorphisms, intellectual disability, and motor-speech delays.^[1] It is caused by a duplication of the p22.1 region of chromosome 7.

Signs and symptoms

The symptoms of this syndrome are (but are not limited to) cranio-facial dysmorphisms such as macrocephaly, frontal bossing, low-set ears, hypertelorism, etc., intellectual disabilities, speech and motor delays, and heart, ocular, renal and skeletal defects (such as patent foramen ovale or brachydactyly type D ).^[2]

Causes

This condition (as the name implies) is caused by a 430 kB duplication of the p22.1 region of chromosome 7.^[1]This mutation is autosomal recessive, meaning that a baby would need 1 copy of a mutated gene from both parents in order to show symptoms of the disorder.

Diagnosis

The evaluation of 7p22.1 microduplication syndrome is based on clinical features and molecular test.^[1]

Treatment

The management of 7p22.1 microduplication depend on the presentation (i.e. generalized seizures are treated with antiepileptic drugs)^[1]

Epidemiology

Only 60 cases of 7q22.1 microduplication syndrome have been recorded in medical literature.^[3]

References