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Participant 110


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Female, age 5 with severe failure to thrive, low muscle tone, absence seizures, global developmental delay, scoliosis, high pain tolerance, and areas of darker and lighter skin on her right leg caused by triploidy mosaicism

Date of Report

Feb 25, 2019

Description

26 weeks into the pregnancy, the participant was found to have intrauterine growth restriction (IUGR). She was born early at 34 weeks weighing 3 pounds and was fed through a G-tube as an infant. As she has grown up, she continues to be very small for her age and gaining weight is difficult.

She also has low muscle tone (hypotonia), absence seizures, developmental delays, and some of her bones are shorter than expected (proximal phalanges of fourth and fifth finger, right tibia, toe).

She underwent a skin biopsy of areas of her skin that are lighter and darker (hypo and hyperpigmented skin lesions on right leg), which showed that some cells have an extra copy of chromosomes (triploidy mosaicism).

Symptoms / Signs
  • Growth delay during pregnancy (severe intrauterine growth retardation)
  • Small for age (severe failure to thrive)
  • Absence seizures
  • Patches of dark and light pigmentation on the skin of right leg (hypo and hyperpigmented skin lesions on right leg)
  • Decreased muscle tone (hypotonia)
  • Scoliosis (levoscoliosis)
  • Protruding forehead (frontal bossing)
  • Low-set ears
  • Dental crowding
  • High, narrow palate
  • Triangular face shape
  • Global developmental delay
  • Indentation of the skin on the lower back (sacral dimple)
  • Abnormal palm and finger creases (single transverse palmar crease on right hand and shallow digit creases)
  • Short bones of ring and pinky fingers (short proximal phalanges of fourth and fifth fingers)
  • Abnormality of hip joints (bilateral coxa valga)
  • Slender long bones
  • Left shin bone longer than right (hemihypotrophy of right tibia)
  • Short toe
  • Early puberty (premature pubarche)
  • High pain tolerance
Current Treatments
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Beckwith-Wiedemann syndrome
  • Russell-Silver syndrome
  • Smith-Lemli-Opitz syndrome
Other Photographs
Genetic Variants of Interest

Clinicians and researchers have identified the following genetic change to be causing the participant’s symptoms: triploidy mosaicism, also referred to as diploid/triploid mosaicism or diploid/triploid mixoploidy.

Of 20 cells examined from hypopigmented skin, 7 out of 20 were triploid (69,XXX) and 13 out of 20 were normal (46,XX). Of 20 cells examined from hyperpigmented skin, 12 out of 20 were triploid (69,XXX) and 8 out of 20 were normal (46,XX).

Contact

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