Tetrasomy 5p usually occurs as a mosaic condition but sometimes is complete.

The clinical findings range from mild to severe depending on the specific region of the duplicated material.


Clinical features:

(1) dysmorphic facial features

(2) generalized hypotonia

(3) seizures

(4) psychomotor/developmental delay

(5) anomalies of the central nervous system (CNS)

(6) short stature

(7) macrocephaly

(8) feeding difficulties

(9) respiratory difficulties

(10) variable skin hyperpigmentation

(11) variable genitourinary malformations

(12) variable intestinal malformations

(13) variable skeletal and limb anomalies (abnormal spinal curvature, clinodactyly, other)

(14) variable congenital heart defects

(15) variable cystic hygroma


Dysmorphic facial features:

(1) up-slanting palpebral fissures

(2) hypertelorism

(3) anteverted nasal tip

(4) long philtrum

(5) midfacial hypoplasia

(6) abnormal external ears

(7) preauricular pits

(8) cleft palate

(9) micrognathia

(10) retrognathia

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