Table 1 Overview on the UPD(6)mat patients reported in the literature
References | ID | Sex | Size of UPD6 | Type | Other genetic findings | Prenatal | Postnatal | Placenta |
|---|---|---|---|---|---|---|---|---|
van den Berg-Loonen et al. [6] | 1 | M | Whole chromosome 6 | Isodisomy | Not detected | IUGR | 1. Low birth weight | NR |
2. Developmental delay | ||||||||
3. Sarcoidosis | ||||||||
4. Renal insufficiency | ||||||||
Spiro et al. [7] | 2 | F | Whole chromosome 6 | Isodisomy | CYP21A2: (p.I172N) | IUGR | CAH | Normal |
Cockwell et al. [9] | 3 | M | Whole chromosome 6 | Heretodisomy | mos46,XY[13]/47,XY, + 6[12] | 1. Exomphalos | Intrauterine death | Normal |
2. AVSD | ||||||||
Parker et al. [8] | 4 | M | Unknown | Isodisomy | 1. 48,XXY, mar[30]/47,XXY[20] | 1. IUGR | 1. Klinefelter Syndrome | NR |
2. CYP21A2 whole gene deletion, hom | 2. Oligohydramnios | 2. CAH | ||||||
3. UPD X(mat) | 3. CHD | |||||||
4. Developmental delay | ||||||||
Haag et al. [10] | 5 | F | Unknown | Unknown | mos46,XX[?]/47,XX, + 6[?] | 1. IUGR | NR | NR |
2. CHD | ||||||||
Gumus et al. [11] | 6 | M | 1. 6p21.1-6p24.3 | Isodisomy | MOCS1: 217C > T (p.R73W), hom | Dandy–Walker malformation | Molybdenum cofactor deficiency | NR |
2. 6q13-6q22.31 | ||||||||
Salahshourifar et al. (2010) | 7 | M | Whole chromosome 6 | Heterodisomy | Not detected | Unilateral cleft lip and palate | Unilateral cleft lip and palate | NR |
Sasaki et al. [12] | 8 | M | Whole chromosome 6 | Isodisomy& heterodisomy | CUL7: c.2975G > C (p.R992P), hom | IUGR | 1.Severe developmental delay | NR |
2. 3M-syndrome | ||||||||
Roosing et al. [13] | 9 | M | Whole chromosome 6 | Isodisomy | TULP1: c.1258C > A (p.Arg420Ser),hom | NR | 1. Low birth weight | NR |
2. Cone dystrophy | ||||||||
Poke et al. [14] | 10 | F | 6q16.1qter | Isodisomy | Not detected | 1.IUGR | 1. Premature(35w), low birth weight (< 10%) | 1. Placental insufficiency |
2. Reduced fetal movements | 2. Dysphagia | 2. Abnormal villous maturation | ||||||
3. Gastro-esophageal reflux | ||||||||
4. Developmental delayed (before 2y) | ||||||||
Takimoto et al. [15] | 11 | F | Whole chromosome 6 | Isodisomy | WASP:c.1276_1285 del_GCCCCTGGTG(p.A426Gfs*15), het | NR | 1.Premature(29w), low birth weight (< 10%) | NR |
2.Wiskott-Aldrich Syndrome | ||||||||
Lazier et al. [16] | 12 | M | Whole chromosome 6 | Isodisomy | Not detected | 1. IUGR (19w) | 1. Low birth weight | Placental dysfunction |
2. Ambiguous genitalia | 2. Abnormal genitalia | |||||||
3.Respiratory distress syndrome | ||||||||
Leung et al. [17] | 13 | F | Whole chromosome 6 | Isodisomy& heterodisomy | Not detected | 1. IUGR | Premature (34w) | mos47,XX + 6[12]/46,XX[19] |
2. Oligohydramnios | ||||||||
14 | F | Whole chromosome 6 | Heterodisomy | Not detected | IUGR | Premature (32w) | mos47,XX + 6[14]/46,XX[16] | |
Eggermann et al. [18] | 15 | F | 6p12.3-6q27 | Isodisomy& heterodisomy | Not detected | IUGR | 1. Facial dysmorphism | Placental dysfunction |
2. Developmental delay | ||||||||
3. Language delay | ||||||||
16 | M | 6p25.3-6q27 | Isodisomy& heterodisomy | CYP21A2: exon 1–8 deletion, hom | 1. IUGR | 1. CAH | NR | |
2. Oligohydramnios | 2. Developmental delay | |||||||
Kerr et al. [19] | 17 | M | Whole chromosome 6 | Isodisomy | Not detected | NR | 1. Premature (32w) | NR |
2. Developmental delay (before 14m) | ||||||||
Our case | 18 | M | Whole chromosome 6 | Isodisomy& heterodisomy | Not detected | IUGR | TOP | NR |
Our case | 19 | F | Whole chromosome 6 | Isodisomy& heterodisomy | Not detected | 1. IUGR | TOP | NR |
2. Abdominal cyst |