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Table 1 clinical presentations of two types of recombinants

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 20 weeks of gestation
Our fetus 1 p15.2q32.3 NA Intro uterine growth retardation No No No Increased NT, ascites, terminated at 24 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 24 weeks of gestation
  1. No no such clinical manifestation was present, NA not available, CHD congenital heart disease, VSD ventricular septal defect, PDA Patent ductus arterious, ASD Atria septal defect
  2. Ten cases in upper part of Table 1 harbered the recombinant type of Dup 4q and del 4p. Ten cases in lower part of Table 1 harbered the the recombinant type of Dup 4p and del 4q