Ring Chromosome 13 in an Infant Girl

Ring chromosome 13, is an uncommon genetic syndrome. We report a girl infant with ring chromosome 13. She is 2nd offspring of family. She had no family history of genetic disorder. Karyotype showed 46xx,r(13). She had hypertelorism, wide nasal bridge, and long philtrum. She is the first report of ring chromosome 13 in Iranian children. DOI: http://dx.doi.org/10.3126/jnps.v34i1.7961 J Nepal Paediatr Soc 2014;34(1):74-76


Introduction
C ons tu onal ring chromosomes are rare and recognized in 1/25,000 concep ons 1 .Ring chromosome 13 accounts for 20% of ring chromosomes an compa ble with life 2 .Ring chromosome 13 is associated with dysmorphic features, mental retarda on, and delayed psychomotor development 3 .Ring chromosome 13 is associated with many of abnormality.We describe a girl infant with ring chromosome 13.This may be the fi rst report of ring chromosome 13 from Iran.

The Case
This newborn female with birth weight of 950 grams (<3 rd cen le) gesta onal age 35 weeks was the second off spring of her family.Her father and mother were aged 29 and 32 years old respec vely.There was no familial history of gene cally syndrome among mother and father rela ves.On examina on the body length was 46.1 (5 th -10 th cen le) and Upper limb/lower limb ra o was 1.68 (Upper limb 28cm, Lower limb 17.2).Infant had hypertelorism, microcephaly, and large ear.Neonatal refl exes and muscle tones were normal.
Prenatal sonography had shown Oligohydramnious.Parent's chromosomal study at cytogene c levels was normal.For cytogene c study, number of counted metaphase was 18. Number of analyzed metaphase was 4. The result of analysis was 46, XX(r13) (Fig- 1).
Follow-up at 4 months of age revealed ptosis of le eye.At 8 months ASQ (Ages and Stages Ques onnaires) was done and the results were as shown in Table-1.There were delay in the communica on, gross motor, and personnel social.Further follow up at nine months when the child was examined it was found that the corrected age was 8 month, body weight, head circumference, body length was 5800 grams (<3 rd cen le), 37.5cm (<3 rd cen le), and 62.5 cm (<3 rd cen le) respec vely (Fig- 3).Body length was 62.5 cm (<3 rd cen le) and upper limb/lower limb ra o was 1.71 (Upper limb= 39.5, Lower limb=23).
There was no hydrocephaly or ventriculomegaly in the brain CT for age.Increased bone density was found around the posterior sagi al suture.Echocardiography and sonography were normal.Rolling and crawling was nega ve for her.ASQ test was done and the result was shown in Table-1.As shown in Table-1, there is delay in three area of development.Child was examined at 12 months of age.Hypertelorism, le eye ptosis, simian crease, wide nasal bridge, long philtrum were found in physical examina on.ASQ was done and there was a delay in all items.Head circumference was 41 cm (<3 rd cen le) at 13 month of age.Six teeth had erupted.

Discussion
Lejune et al described ring chromosome 13 at 1968 4 ( 1 ).Ring chromosome 13 is rela vely uncommon gene c disorder with es mated incidence of 1/58,000 of live birth 5 .Also there is some reports of ring chromosome 13 in some countries 6,7 .It is the fi rst report of ring chromosome 13 in Iran.
The clinical presenta on of ring chromosome 13 may be variable 8 .Niebur and O osen 9 suggested there dis nct clinical syndrome for ring chromosome 13; group I, is associated with severe mental retarda on, microcephaly, true hypertelorism, salient frontal bossing erasing the nasal bridge, and large ear with deep sulci.Our case had hypertelorism, microcephaly, and large ear which was similar to group I of Niebur and O osen classifi ca on 9 .Group II, is associated with clinical manifesta on of group I in addi on to foot and toe abnormali es, severe genital malforma on, anal atresia, and eye malforma on.Group III is characterized by re noblastoma 9 .Other associa on with the syndrome includes re nal detachment 10 , imperforate anus, iris coloboma, and developmental anomalies of the brain 11 .
Our case seems to be in group I. Our case showed delay development in gross motor, communica on, and personal-social skill in eight month of age.A er four month of follow-up, she had delay in all of the items (communica on, gross motor, fi ne motor, problem solving, and personal social skill).Hypertelorism and large ear were other fi ndings and were consistent with Group I classifi ca on.Also there was some abnormality it the results of thyroid hormone, according to consulta on with the paediatric endocrinologist infants received no treatment and were placed under observa on.
Anencephaly was reported in associa on with ring chromosome 13 12 .There is report of hypertelorism as one of clinical manifesta on of ring chromosome 13 13 .This case may be the fi rst report of ring chromosome 13 among Iranian popula on.

Conclusion
It is important for physicians to inves gate cases to detect gene c abnormality and appropriate consulta on to prevent such problems.
. Anterior fontanel was open.Cranial sutures were open but slightly small than appropriate This work is licensed under a Creative Commons Attribution 3.0 License.

Table 1 :
Result of ASQ test * Delay in development