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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