From: Recombinant chromosome 4 in two fetuses - case report and literature review
Authors | Sub-bands | Clinicalpresentations | Outcome and annotations | ||||
---|---|---|---|---|---|---|---|
Facial dysmorphisism | Growth and development/mental delay | CHD | Extremities abnormailities | Genital abnormalities | |||
Dup 4q and del 4p | (10 cases) | ||||||
Narahara et al. 1984 [9] | p15.2q35 | Microcephaly frotal bossing hypertelorism epicanthic folds small chin | Growth retardation development delay | VSD | Sacral dimple | No | Live |
de la Flor & Guitart 1987 [10] | p16q31.3 | Broad flat nasal bridge high forehead hypertelorism small chin (Greek Helmet appearence) | Growth retardation development delay | No | No | No | Live |
Hirsch et al.1993 [11], patient III-1 | p15.32q35 | Flat nasal bridge prominent forhead small chin hypertelorism microcephaly iris coloboma retinal dysplasia | Growth retardation development delay | No | No | No | Live |
Wolf et al. 1994 [12] | p13q28 | NA | NA | NA | NA | NA | Fetal demise |
Villa et al.1995 [13] | p15.2q28.2 | Greek warrior helmet appearance prominent forhead hypertelorism downslanting palpebral fissures epicanthal folds small chin | Growth retardation | PDA | Abnormal fingers and clubfeet | Cryptorchidism | Redundant skin on the neck, arm and back neonatal death |
Ogle et al.1996 [14] | p15.2q35 | Consistent to the WHS high forhead broad nasal bridge downslanting palpebral fissures abnormal ears | Growth retardation development delay intelectual disability | Small VSD | Thoracic scoliosis joint contractures abnormal fingers | Secondary sexual characteristics were underdeveloped, the left testis was in the scrotum and hypoplastic, and the right undescended. | Live |
Mun et al. 2010 [15] | p16q31.3 | No | Mild growth retardation | No | No | No | Live |
Dufke et al. 2000 [16] | p16.2q35.1 | Consistent to WHS high forehead hypertelorism broad nasal bridge dolichocephaly | Growth retardation | No | No | No | Live |
Malvestiti et al. 2013 [17] | p16.3q35.2 | Hypertelorism prominent eyes low-set ears beaked nose small chin | Intrauterine growth retardation | No | No | No | Terminated at 20Â weeks of gestation |
Our fetus 1 | p15.2q32.3 | NA | Intro uterine growth retardation | No | No | No | Increased NT, ascites, terminated at 24Â weeks of gestation |
Dup 4p and del 4q | 10 cases | ||||||
Hirsch et al.1993, [11] patient II-5 | p15.32q35 | Unilateral ptosis facial asymetry prominent ears with abnormal helices | Mental retardation but was reported to be caused by birth asphyxia | No | Congenital hip dis-location and scoliosis | No | Live |
Battaglia et al. 2002 [5] | p14q35.1 | Mild ptosis, upturned nose, thin upper lip prominent ears with a mild cupped configuration | Growth delay | Congenital heart defectbut not mentioned in detail | Short fingers with transverse creases, abnormal toe, coccyx dimple | Underdeveloped scrotum | Live |
Garcia-Heras et al. 2002 [18] | p15q35 | Microcephaly prominent forhead shallow orbit midface dysplasia small chin | Growth and develoment delay | Pulmonary hypertension and PDA | No | No | Live |
Stembalska et al. 2007 [19] patient1 | p14q35 | Microcephaly abnormal ears with cupped configuration broad nose short neck | Growth and development delay | No | Short fingers | No | Live |
Stembalska et al. 2007 [19] patient 2 | p14q35 | Microcephaly abnormal ears with cupped configuration broad nose short neck | Growth and development delay | No | Short fingers | No | Live |
Maurin et al. 2009 [20] | p15.1q35.1 | Anteverted nose large philtrum downslanting palperbral fissure thin upper lip short neck | Growth and development delay | Interauricular septal defect | Mild edema of feet | No | Live |
Hemmat et al. 2013 [7] | p15.1q35.1 | Microcephly broad nose with anteverted nares thin upper lip abnormal ears short neck | Developmental delay | Congenital heart disease but not mentioned in detail | No | Yes but not mentioned in detail | Live |
Tassano et al. 2012 [8] | p15.1q35.1(de novo) | Hypertelorism prominnet ears with cupped configuration saddle nose thin upper lip retrognathia short neck | Growth and development delay | No | Congenital lucation of the right hip bilateral clubfeet | No | Live |
Decipher Patient ID 269158 | p15.3q34.2 | Prominent forhead | Developmental delay | ASD | NA | NA | Live |
Our fetus 2 | p15.2q32.3 | NA | No | VSD overriding aorta persistent trunk | No | No | Terminated at 24Â weeks of gestation |