Trisomy 13 syndrome in Infant/Neonate
There are three causes of trisomy 13:
- An extra copy of chromosome 13 in all cells,
- An extra copy of chromosome 13 in some cells (mosaic trisomy 13), or
- A Robertsonian translocation involving the long arm of chromosome 13.
The majority of trisomy 13 patients die in utero, with fewer than 5% of affected patients living beyond the first year of life. In cases of mosaic trisomy 13, physical features and disease severity may vary and tend to correlate positively with the number of cells containing the extra chromosome.
Q91.7 – Trisomy 13, unspecified
21111006 – Complete trisomy 13 syndrome
- Incontinentia pigmenti – Primary lesions in this condition classically progress through vesicular, verrucous, hyperpigmented, and hypopigmented stages.
- Sturge-Weber syndrome – A noninherited condition classically characterized by the presence of port-wine stains, epilepsy, and ocular abnormalities.
- Cornelia de Lange syndrome – Characterized by a distinct facial morphology, crescent-shaped mouth opening, hirsutism, low-pitched infant cry, growth retardation, limb / digital abnormalities, and abnormal internal organ development.
- Fetal alcohol syndrome
- Tuberous sclerosis because of hypopigmented lesions