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Table 1 Comparison of present case with reported cases with trisomy 7q21 → qter/ 7q22 → qter due to parental balanced-translocations

From: A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature

 

Forabosco et al., 1988 [9]

Courtens et al., 2001 [1]

Rodriguez et al., 2002 [10]

Present case

Case 1

Case 2

Case 3

Case 1

Case 2

Age

Newborn

Newborn

7 months

Fetus - 9 wks

Newborn

5 months

2 years and 4 months

Sex

F

M

F

F

F

F

F

Cytogenetic result

- Trisomy

7q21-qter

7q21-qter

7q22-qter

7q21.2-qter

7q21.2-qter

7q21.2-qter, 15p

7q22.1-qter

- Monosomy

5p14-pter

13q33-qter

1qter

21p12-pter

4q35-qter

14q32.3-qter

- Parent

t(5;7)mat

t(7;13)pat

t(1;7)mat

t(7;21)mat

t(4;7)pat

t(7;15)mat

t(7;14)mat

Delivered at (weeks)

41

39

32

Termination

37 + 6 days

40

35 + 2 days

Birth weight

2200 g

2850 g

1950 g

(271 g)

1940 g

2.700 g

1500 g

Newborn respiratory distress

+

+

+

NA

+

+

+

Hypotonia

+

+

+

  

+

 

Microcephaly

+

+

     

Wide fontanelles

+

 

+

+

 

+

+

High forehead

  

+

+

+

 

+

Prominent occiput

  

+

   

+

Other skull anomalies

    

Asymmetry

 

Scaphocephaly

Triangular face

    

+

 

+

Hypertelorism

+

+

+

+

+

 

+

Flat/wide nasal bridge

+

+

+

+

+

 

+

Down slanting eyes

+

+

+

 

+

 

+

Other eye anomalies

  

L/Anoph-thalmia

 

Micro-ophthalmia

 

Retinal changes

Low-set ears

+

+

+

+

+

 

+

Malformed ears

+

+

+

 

+

  

Small nose

+

+

+

+

  

+

Micro/retrognathia

+

+

+

+

+

+

+

Macroglossia

 

+

+

 

+

  

Cleft palate

 

+

 

+

+

+

 

High arched palate

      

+

Short neck

+

+

+

+

+

 

+

Low hairline

    

+ Posterior

 

+ Anterior

Clinodactyly

    

+

 

+

Skeletal deformities

 

Clubfoot

   

Scoliosis

Calcaneovarus

Cardiovascular defects

   

L/S SVC

 

PDA, HCM

 

CNS malformations

+a

 

+b

 

+c

+d

+e

Abnormal EEG/ Seizures

  

+

  

+

 

GI malformations

   

Malrotation

Complexf

  

Mental retardation

NA

NA

+

NA

NA

+

+

Survival

38 h

23 h

7 months

Termination

2 days

11½ months

Alive

  1. adilated ventricles–mild hydrocephalus; bdiffuse hypodensity of cerebral white matter; cfocal cortical dysplasia of cerebellar vermis; ddilatation of lateral ventricles, subependymal hemorrhage, multicystic encephalomalacia; ebilateral lateral ventriculomegaly and periventricular thalamic striations; fagenesis of appendix, hypoplasia of gallbladder, small and deformed pancreas, NA not applicable, HCM hypertrophic cardiomyopathy