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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
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Clinical Epigenetics

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