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Table 1 Summary of the clinical features in UPD(14)mat or Trisomy 14 mosaicism and the clinical features of liveborn previously reported with UPD(14)mat and trisomy 14 mosaicism

From: Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability

Clinical Category UPD(14)mat [23] Trisomy 14 mosaicism [16, 24] [4] [21] [19] patient A [20] Present case
Gender/Race NA NA F/NA F/NA F/Dutch F/Guinean M/Chinese
Age at Diagnosis NA NA 5y 2y 8.9y 15y 10y
Mother age NA NA NM NM NM NM 35y
Mosaic level NA NA Low level NM Paternal chr14 in some cells T14 = 2-49 % T14 = 15-20 % (SNP array)
T14 = 1 % (100 cells)
De Novo NA NA NM NM NM   Y
Prenatal Manifestation Premature birth (12/30) Polyhydramnios (7/24) NM NM 38 weeks Full term Full term;
Growth Intrauterine growth retardation (IUGR) (23/29); Low birth weight (24/28);
Short stature (30/37);
Truncal obesity (15/30);
Growth retardation (17/24) IUGR;
1,870 g (<3rd);
Short stature;
Truncal obesity;
2,340 g(<3rd);
Short stature;
Truncal obesity;
2,000 g(<3rd);
Short stature;
Truncal obesity;
2,350 g (<3rd);
Short stature;
Truncal obesity;
Head and Neck Relative macrocephaly (38/68) Microcephaly (10/40);
Short neck(14/24);
NM NM NM   Short neck
Face Frontal bossing (11/40);
Short philtrum (7/40);
Micrognathia (7/40);
Recurrent otitis media (8/40);
Ocular hypertelorism;
Broad nose (5/40);
Depressed nasal bridge (in some patients);
Anteverted nares (in some patients);
High arch palate (11/40);
Frontal bossing (12/24);
Abnormal palpebral fissures(15/24);
Palpebral ptosis(4/24);
Nose abnormalities(16/24);
Anteverted nostrils(4/24);
Ears abnormalities(14/24);
Mouth abnormalities (32/40);
High arch palate(8/24);
palpebral fissures;
Anteverted nares;
Narrow palate;
Low-set ears;
Supraorbital fullness;
Square and low-set ears;
Small up-turned nose;
Open-mouth appearance;
Recurrent ear infections;
Broad and depressed nasal bridge; Short nose;
Upslanting palpebral fissures;
Ocular hypertelorism;
Small palpebral fissures;
Depressed nasal bridge;
Gastrointestinal Feeding difficulty (16/40) - Feeding difficulty NM NM Feeding difficulty Feeding difficulty
Cardiovascular - Congenital heart defect (24/40) NM Atrial septal defect NM NM -
Genitourinary Cryptorchidism (rare);
Small testes (rare);
Micropenis(6/9), Cryptorchidism(7/9) NM NM NM NM Cryptorchidism on the right side
Skeletal Hyperextensible joints (9/15);
Joint contractures (4/51);
Scoliosis (6/23);
Small hands (25/30) and feet (19/20);
Clinodactyly (6/40);
Body asymmetry Small hands and feet Left hand agenesis Loose hand joints; Hyperextensible joints Thoraco-lumbar scoliosis;
Buffalo bump; barrel chest;
Small hands and feet;
Inapparent fifth finger;
Neurologic Hydrocephalus;
Hypotonia (29/32);
Motor development delay (26/32);
Speech delay (9/20);
Mild to moderate intellectual disability (11/26);
Fine motor/coordination problems (3/40);
Hypotonia (8/40);
Psychomotor retardation;
Dandy–Walker malformation;
language delay;
Learning difficulty;
Moderate degree developmental disability;
Hypotonia Hypotonia;
Motor development delay;
Speech development delay;
Moderate intellectual impairment;
Severe learning difficulties; Hypotonia;
Learning difficulty;
Attention deficit;
Less communication with his peers;
language delay;
Moderate to severe intellectual disability; WISC:35-55-38; RSPM:6 %;
Endocrine Features Early onset/Premature puberty (13/15); Maturity-onset diabetes of the young (rare); - Early puberty NM - Precocious puberty; -
Laboratory Abnormalities Hypercholesterolemia (4/40);
Hypertriglyceridemia (rare);
- NM NM NM Hypercholesterolemia Low serum GH level
Skin - Abnormal skin pigmentation(11/24) NM NM NM Abnormal skin pigmentation Abnormal skin pigmentation
  1. F female, M male, NA not applicable, NM not mentioned; −: feature absent
  2. The cases of concomitant UPD(14)mat and partial trisomy 14 mosaicism were not included