Table 1

 Comparison of clinical findings observed in patients with 9q34.3 monosomy or OTCS

ManifestationsOTCS*KCL1KCL2KCL3KCL4KCL5This studydel 9q34.3†
+, Feature present; −, feature absent; ASD, atrial septal defect; blank, feature not reported or not verified; Cr, cryptorchidism; F, female; FOC, frontal-occipital circumference; GU, genito-urinary ; Hs, hypospadias; KA, kidney anomalies; M, male; Mp, micropenis; n, number observed cases; SS, shawl scrotum; VSD, ventricular septal defect.
*Frequency of clinical manifestations among reported (n = 28) OTCS patients.18,19,21–23
†Only patients with pure deletion 9q34.3 summarised (n = 20), including two related individuals with der(9)t(9;13)(q34.3;p12).1–8,10,11
‡Frequency of feeding difficulties (gastroesophageal reflux, vomiting, aspiration).
9q34.3 deletion size (Mb)2.3001.5501.0500.7000.700
Gender14M/14FMFFFM2M/3F11M/9F
Age (years)14/12339/12948/12
Gestational age (weeks)4032404142
FOC at birth/present (centile)<5th/<<5th/<<2th25th/<2th/10th10th/15th
Birth length/present height (centile)<5th/<5th50th/25th/75th25th/80th
Weight at birth/present (centile)<5th/<5th5th/50th/95th90th/97th25th/97th
Survival at age 2 years22/27 (81%)++++4/517/20 (85%)
Obesity++2/55/19 (26%)
Microcephaly19/26 (73%)+++++5/517/20 (85%)
Trigonocephaly28/28 (100%)+1/50/20 (0%)
Prominent forehead0/511/20 (55%)
Ear abnormalities26/26 (100%)++++4/59/20 (45%)
Upslanted palpebral fissures26/27 (96%)+1/53/16 (19%)
Epicanthal folds25/28 (89%)+1/55/17 (29%)
Synophrys, arched eyebrows++++4/513/19 (68%)
Hypertelorism+++++5/58/19 (42%)
Broad depressed nasal bridge21/27 (78%)+++++5/515/20 (75%)
Small nose with anteverted nostrils25/28 (89%)++++4/514/19 (74%)
Midfacial hypoplasia++++4/513/20 (65%)
Micrognathia18/27 (67%)0/53/4 (75%)
High-arched palate21/26 (81%)++2/54/15 (27%)
Deep furrow palate21/26 (81%)+1/5
Open “carp-like” mouth+++3/56/8 (75%)
Large, protruding tongue+++3/511/20 (55%)
Widely spaced teeth+++++5/5
Short neck18/25 (72%)++2/56/18 (33%)
Loose redundant skin16/22 (73%)0/54/15 (27%)
Haemangiomata9/19 (47%)+++3/51/1
Upper limb anomalies22/25 (88%)+1/53/17 (18%)
Single transverse palmar crease10/24 (42%)+1/54/17 (24%)
Lower limb anomalies17/24 (71%)++2/56/20 (30%)
Joint laxity+++2/45/15 (33%)
Cardiac defects16/27 (59%)+ (ASD, VSD)+ (ASD)2/510/20 (50%)
Feeding difficulties‡16/22 (70%)+++++5/53/4 (75%)
GU abnormalities9/10 (90%)+ (Hs, Mp, Cr, KA)+ (SS)2/58/20 (40%)
Abnormal brain MRI5/10 (50%)++2/54/16 (25%)
Hearing loss3/28 (11%)0/53/19 (16%)
Hypotonia17/24 (71%)+++++5/517/20 (85%)
Mental retardation/speech delay23/24 (96%)+++++5/517/18 (94%)
Seizures8/23 (35%)++2/57/19 (37%)
Recurrent infections15/24 (63%)++2/57/15 (47%)