9q34.3 deletion size (Mb) | | 2.300 | 1.550 | 1.050 | 0.700 | 0.700 | | |
Gender | 14M/14F | M | F | F | F | M | 2M/3F | 11M/9F |
Age (years) | | 14/12 | 3 | 39/12 | 9 | 48/12 | | |
Gestational age (weeks) | | 40 | 32 | 40 | 41 | 42 | | |
FOC at birth/present (centile) | | <5th/<<5th | /<<2th | 25th/<2th | /10th | 10th/15th | | |
Birth length/present height (centile) | | <5th/<5th | | 50th/25th | /75th | 25th/80th | | |
Weight at birth/present (centile) | | <5th/<5th | 5th/ | 50th/95th | 90th/97th | 25th/97th | | |
Survival at age 2 years | 22/27 (81%) | − | + | + | + | + | 4/5 | 17/20 (85%) |
Obesity | | − | − | − | + | + | 2/5 | 5/19 (26%) |
Microcephaly | 19/26 (73%) | + | + | + | + | + | 5/5 | 17/20 (85%) |
Trigonocephaly | 28/28 (100%) | + | − | − | − | − | 1/5 | 0/20 (0%) |
Prominent forehead | | − | − | − | − | − | 0/5 | 11/20 (55%) |
Ear abnormalities | 26/26 (100%) | + | + | − | + | + | 4/5 | 9/20 (45%) |
Upslanted palpebral fissures | 26/27 (96%) | + | − | − | − | − | 1/5 | 3/16 (19%) |
Epicanthal folds | 25/28 (89%) | − | + | − | − | − | 1/5 | 5/17 (29%) |
Synophrys, arched eyebrows | | + | + | − | + | + | 4/5 | 13/19 (68%) |
Hypertelorism | | + | + | + | + | + | 5/5 | 8/19 (42%) |
Broad depressed nasal bridge | 21/27 (78%) | + | + | + | + | + | 5/5 | 15/20 (75%) |
Small nose with anteverted nostrils | 25/28 (89%) | + | + | − | + | + | 4/5 | 14/19 (74%) |
Midfacial hypoplasia | | + | + | − | + | + | 4/5 | 13/20 (65%) |
Micrognathia | 18/27 (67%) | − | − | − | − | − | 0/5 | 3/4 (75%) |
High-arched palate | 21/26 (81%) | + | + | − | − | − | 2/5 | 4/15 (27%) |
Deep furrow palate | 21/26 (81%) | + | − | − | − | − | 1/5 | |
Open “carp-like” mouth | | + | + | − | + | − | 3/5 | 6/8 (75%) |
Large, protruding tongue | | + | + | + | − | − | 3/5 | 11/20 (55%) |
Widely spaced teeth | | + | + | + | + | + | 5/5 | |
Short neck | 18/25 (72%) | + | + | − | − | − | 2/5 | 6/18 (33%) |
Loose redundant skin | 16/22 (73%) | − | − | − | − | − | 0/5 | 4/15 (27%) |
Haemangiomata | 9/19 (47%) | + | − | + | + | − | 3/5 | 1/1 |
Upper limb anomalies | 22/25 (88%) | + | − | − | − | − | 1/5 | 3/17 (18%) |
Single transverse palmar crease | 10/24 (42%) | + | − | − | − | − | 1/5 | 4/17 (24%) |
Lower limb anomalies | 17/24 (71%) | + | − | + | − | − | 2/5 | 6/20 (30%) |
Joint laxity | | + | − | + | + | − | 2/4 | 5/15 (33%) |
Cardiac defects | 16/27 (59%) | + (ASD, VSD) | + (ASD) | − | − | − | 2/5 | 10/20 (50%) |
Feeding difficulties‡ | 16/22 (70%) | + | + | + | + | + | 5/5 | 3/4 (75%) |
GU abnormalities | 9/10 (90%) | + (Hs, Mp, Cr, KA) | − | − | − | + (SS) | 2/5 | 8/20 (40%) |
Abnormal brain MRI | 5/10 (50%) | + | + | − | − | − | 2/5 | 4/16 (25%) |
Hearing loss | 3/28 (11%) | − | − | − | − | − | 0/5 | 3/19 (16%) |
Hypotonia | 17/24 (71%) | + | + | + | + | + | 5/5 | 17/20 (85%) |
Mental retardation/speech delay | 23/24 (96%) | + | + | + | + | + | 5/5 | 17/18 (94%) |
Seizures | 8/23 (35%) | + | + | − | − | − | 2/5 | 7/19 (37%) |
Recurrent infections | 15/24 (63%) | + | + | − | − | − | 2/5 | 7/15 (47%) |