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

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;

Polyhydramnios;

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;

NM

IUGR;

2,340 g(<3rd);

Short stature;

Truncal obesity;

IUGR;

2,000 g(<3rd);

Short stature;

Truncal obesity;

IUGR;

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);

hypertelorism(8/24);

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);

Micro/retrognathia(18/24);

Upslanting

palpebral fissures;

Anteverted nares;

Narrow palate;

Micrognathia;

Low-set ears;

Hypertelorism;

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;

Seisure(5/24);

Dandy–Walker malformation;

Hypotonia;

language delay;

Learning difficulty;

Moderate degree developmental disability;

Hypotonia

Hypotonia;

Motor development delay;

Speech development delay;

Moderate intellectual impairment;

Severe learning difficulties; Hypotonia;

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