FAMILIAL UNBALANCED REARRANGEMENTS OF CHROMOSOME 5 DUE TO A MATERNAL BALANCED TRANSLOCATION 5;9
Sukarova-Angelovska E, Kocova M*
*Corresponding Author: Professor Dr. Mirjana Kocova, Pediatric Clinic, Medical Faculty, Vodnjanska 17, 1000 Skopje, Republic of Macedonia; Tel: +389-111-713; Fax: 389-129-027; E-mail: ozonunit@unet.com.mk
page: 73

CLINICAL REPORT

The proband was a 20-day-old male newborn of unre­lated parents, both aged 40; he was the seventh child in the family. The first three children (one girl and two boys) died at different ages (3 months, 1 year and 3 years, respectively). No data on the cause of death in these chil­dren were available. According to the parents, however, all showed developmental delay, and one physically resem­bled the proband. The cause of the developmental delay was never determined.

The pregnancy with the proband was normal and the baby was born in the 38th gestational week. He was small for the gestational age (1800gr/46cm). After delivery he had to be resuscitated because of fetal distress. After stabi­lization in the intensive care unit, elucidation of the facial dysmorphism was requested. The baby had a characteristic weak cry, microcephaly, broad forehead, thin and sparse hair, hypertelorism, antimongoloid-slanted small eyes, and lateral placement of inner canthi with short palpebral fis­sures. Facial dysmorphism also included broad nose, small mouth, thin lips, small tongue, and micrognathia. The ears were low-set and poorly developed. The baby had a short neck, slender body, narrow shoulders and chest, and club feet. The fingers of the hands were relatively long, simian crease was present bilaterally. The nails were hypoplastic on the fingers, and especially on toes (Fig. 1A).

Routine laboratory investigations were normal, except anemia (Hb 10.1 g/dL) and slight hypoproteinemia (total proteins 58 gr/L) due to poor feeding. Ultrasonographic examination of the heart, performed due to systolic mur­mur, showed a ventricular septal defect into the membra­naceous part of the septum. Ultrasonographic examination of the brain raised a suspicion of absence of corpus callo­sum. Ultrasonographic examination of the kidneys was normal. The baby had swallowing difficulties and nutrition was performed by nasal catheter. Esophagography did not show any structural defect of the esophagus, however, dysfunction of the swallowing act was confirmed. Epi­sodes of milk aspiration were frequent, and the baby suf­fered several aspiration pneumonias.

The mother of the child was a 40-year-old woman with mild dysmorphic features: flat forehead, protruding eyes, divergent strabismus. Her mental status was within the normal range. She had had surgery because of thyroid carcinoma 3 years prior to this pregnancy, and has been on thyroxin therapy ever since. Her facial appearance could be attributed to the thyroid disease.

The proband's sister was a 14-year-old girl who had previously been diagnosed with cerebral palsy. She had a profound developmental delay, being unable to sit and walk. She could hardly speak or communicate, even with close members of her family. Truncal hypotonia was pres­ent with significant stiffness of the great joints. She had had repeated seizures since infancy, despite the anti-con­vulsive therapy. Her facial dysmorphism included micro­cephaly, hypertelorism, long and up-slanting palperal fis­sures, long philtrum, and pointed mandible. Her limbs were slender, with arachnodactylia. She had kyphosco­liosis caused by long lasting immobility. No visceral ab­normalities were recorded in this girl (Fig. 1B). Two other girls in the family, aged 10 and 7 years, respectively, were normal, without dysmorphic features or developmental delay. The family pedigree is presented in Fig. 2.

 

 

 

 

 

 

 

 

Figure 1. A) The proband with deletion 5p. B)The proband’s sister with trisomy 5p

 

 

Figure 2. Family pedigree (1*: the proband with CdCS; 2*: the proband's sister with trisomy 5p; 3*, 4* and 5*: mother and two sisters, carriers of the translocation).

 




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