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Table 1 Clinical findings in six cases with parthenogenetic mosaicism

From: Parthenogenetic mosaicism: generation via second polar body retention and unmasking of a likely causative PER2 variant for hypersomnia

 

Case 1

Case 2

Case 3

Case 4

Case 5

Case 6

<Parthenogenetic mosaicism>

Karyotype

46,XX/46,XY

46,XX/46,XY/69,XXY

46,XX/46,XY

45,X/46,XX

46,XX/47,XXX

46,XX

Parthenogenetic cells

46,XX

46,XX

46,XX

46,XX

46,XX

46,XX

Non-parthenogenetic cells

46,XY

46,XY & 69,XXY

46,XY

45,X

47,XXX

46,XX

Frequency of parthenogenetic cells

> 98% (L)

~ 100% (L)

0% (L)

84% (L)

42% (Amniocytes)

70% (L)

< 5% (SF)

~ 0% (SF)

45% (SF)

56% (Saliva)

 

67% (Saliva)

Generation mechanism

PA and ER

Unknown

PA and ER

PA and ER

PA and ER

PB-2 retention and ER

<Clinical features>

Present age

1.2 years

Unknown

Unknown

34 years

18 weeks of gestation

28 years

Phenotypic/social sex

Male

Male

Male

Female

Unknown

Female

Prenatal growth failure

–

+

Unknown

+

+

+

Birth length — cm

Unknown

Unknown

Unknown

44.0 (− 3.1 SD)

… (Fetus)

42.0 (− 4.6 SD)

Birth weight — kg

3.36 (− 0.5 SD)

< 3rd percentile

Unknown

2.10 (− 2.9 SD)

… (Fetus)

2.41 (− 3.0 SD)

Birth OFC — cm

Unknown

50th percentile

Unknown

30.5 (− 2.3 SD)

… (Fetus)

Unknown

Postnatal growth failure

Unknown

–

Unknown

+

… (Fetus)

+

Present height — cm

Unknown

25 percentile

Unknown

125.0 (− 6.2 SD)

… (Fetus)

146.9 (− 2.1 SD)

Present weight — kg

Unknown

Unknown

Unknown

37.5 (− 2.0 SD)

… (Fetus)

60.4 (+ 0.9 SD)

Present OFC — cm

Unknown

Unknown

Unknown

51.2 (− 2.8 SD)

… (Fetus)

55.6 (− 0.1 SD)

Intellectual disability

+ (Mild)

+ (Moderate)

+

+ (DQ 56)

… (Fetus)

± 

Hypotonia

Unknown

Unknown

Unknown

+

… (Fetus)

+

Disorder of sex development

+ (46,XX DSD)

+ (Genital anomalies)

Unknown

–

… (Fetus)

–

<SRS: Netchine-Harbison scoring system features>[7]

Birth length and/or weight ≤  − 2 SDS

–

+ (probably)

Unknown

+

… (Fetus)

+

Relative macrocephaly at birtha

Unknown

+ (probably)

Unknown

+

… (Fetus)

Unknown

Postnatal height (at ~ 2 years) ≤  − 2 SDS

Unknown

–

Unknown

+

… (Fetus)

+

Prominent forehead (1–3 years)

Unknown

+ (probably)

Unknown

+

… (Fetus)

+

Body asymmetry

+

+

+

+

… (Fetus)

+

Feeding difficulties and/or low BMI

Unknown

Unknown

Unknown

Unknown

… (Fetus)

+

Other features

Footnote-1

Footnote-2

Footnote-3

Footnote-4

Footnote-5

Footnote-6

References

[2]

[3] (Patient 11)

[4] (Patient 30)

[5]

[6]

This patient

  1. Footnote-1: Bifid uvula and submucous cleft palate. Footnote-2: Clinodactyly, syndactyly of toes, and down-turned mouth. Footnote-3: Skin pigmentation, hearing loss, and childhood obesity. Footnote-4: Triangular face, 5th finger clinodactyly, and horseshoe kidney. Footnote-5: Short nasal bone, single umbilical artery, and diaphragmatic hernia (left). Footnote-6: Bilateral myopia, left hearing loss, hypoplastic and low-set ears, micrognathia, irregular teeth, small hands and feet, 5th finger shortening and clinodactyly, big and laterally deviated toes, café au lait spots, truncal obesity, precocious puberty, and hypersomnia
  2. OFC, occipitofrontal circumference; SDS, standard deviation score; BMI, body mass index; L, leukocytes; SF, skin fibroblasts; PA, parthenogenetic activation; ER, endoreplication; PB-2, second polar body; and DQ, developmental quotient
  3. aBirth OFC SDS ≥ 1.5 above birth length or weight SDS