Table 2 Prenatal and postnatal clinical features in the particular cases of the microdeletion 14q22q23
Author | This Report | Bennet [1991] | Nolen [2006] | Phadke [1994] | Pearce [2012] | Brisset [2014] (Pat 1) | Thienpont [2007] | Bakrania [2008] | Lumaka [2012] | Hayashi [2008] | Reis [2011] | Martínez-Fernández [2013] | Delahaye [2012] | Latypo-va [2016] | Brisset [2014] | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
genes relevant to the phenotype | BMP4 and OTX2 | BMP4 | OTX2 | ||||||||||||||||||||
age | TP | TP | neonate | neonate | neonate | 4Y (Pat. 1) | NR | NR (Pat. 1) | NR (Pat. 2) | familial | 1Y | 6Y (Pat. 1) | 12Y (Pat. 2) | familial | 24 Y (Pat. 3) | 14Y (Pat. 4) | 27Y | 4Y (Pat. 2) | 4Y (Pat. 3) | ||||
size in MB | 7.7 | NR | 9.66 | NR | 5.7 | 8.8 | 6.7 | NR | 2.79 | 2.7 | 2.2 | 0.15 | 4.06 | 2.25 | 0.11 | 0.12 | 8.9 | 5.8 | |||||
gender | M | F | M | M | F | F | M | M | F | F | F | F | M | F | F | F | F | F | M | F | F | F | M |
microphtalmia | – | – | – | – | + | – | – | – | – | + | – | – | – | – | Rieger anom. | + | – | – | + | + | – | – | – |
anophtalmia | +/autopsy | + | + | + | + | + | + | + | + | – | – | – | – | – | – | – | – | – | – | – | – | + | + |
sclerocornea | – | NR | – | – | – | – | – | – | – | + | – | – | – | + | – | – | – | – | – | – | – | – | – |
poly−/syndactyly of hands | + | – | + | – | – | + | + | – | – | + | – | – | – | – | – | – | – | + | – | – | – | – | – |
poly−/syndactyly foot | – | – | + | – | – | – | – | – | – | – | + | – | + | + | – | – | – | – | – | – | – | – | |
digit abnormality (−dactyly) | – | brachy | brachy | clin | – | – | – | NR | NR | NR | NR | NR | NR | – | – | – | – | – | – | – | – | – | – |
micro/rethrogna-thia | + | + | + | + | – | + | – | – | – | + | – | + | – | + | small chin | maxillary hypoplas. | – | – | – | – | + | – | – |
cleft uvula/palate | – | – | – | + | oral frenulum | – | – | – | – | + | – | + | – | – | – | – | – | – | + | – | – | – | – |
hearing/ear anomalies | NR | + | + | + | + | + | + | + | – | – | – | + | – | – | – | + | – | – | – | – | + | + | + |
brain anomalies | +/autopsy | NR | + | – | – | + | – | + | + | + | – | + | – | + | – | – | – | + | – | – | – | – | – |
ID or DD | NR | NR | + | + | NR | + | – | + | + | + | – | + | – | + | + | + | NR | + | + | + | – | + | + |
CHD | – | – | – | – | – | + | + | – | – | – | – | – | – | – | – | – | – | – | – | – | – | – | – |
anomaly of head (−cephaly) | – | micro- | brachy−/micro- | micro- | micro- | – | – | plagio−/micro- | – | – | – | NR | NR | – | makro | – | makro | – | micro | – | – | micro | – |
cryptorchidism/ hypospadia | NR | NR | + | hypo-spadia | NR | – | + | + | – | – | – | – | – | – | – | – | – | – | – | – | – | – | testicu-lar reten. |
growth delay | – | NR | + | low birth weight | – | + | NR | NR | NR | + | + | + | – | + | + | – | – | – | – | + | – | + | + |
pituitary hypoplasia | NR | + | + | – | – | + | NR | + | hypothyr. | NR | NR | – | NR | – | NR | NR | – | – | – | + | – | + | + |
week of detection | 12w/17w | 21w | 32 w | – | 2nd trimester | – | – | – | – | 18w | – | – | – | – | – | – | – | – | – | – | – | – | – |
antenatal findings | microgna-thia poly-dactyly of hands, hypop.of the NB, susp. Pierre-Robin anomaly | increased NT, unusual shape of head, small orbits | IUGR | Pierre-Robin anomaly | polyhydr-amnion absent orbit, duodenal atresia, deficient corpus callosum | retrognatia, absent NB, susp. Polydactyly, Pierre-Robin anomaly | LB - liveborn, TP – termination of pregnancy, NB - nasal bone, US - ultrasound NR - not reported, (+) presence of the clinical feature, (−) absence of the feature | IUGR | |||||||||||||||
outcome of pregnancy | TP | TP | LB | LB | LB | LB | |||||||||||||||||