SYNDROME DEL(5)(Q14 ~ 23), DER(10)(P12P15)? ADD(10)(Q26): CASE REPORT AND LITERATURE REVIEW
DOI:
https://doi.org/10.5433/1679-0367.2017v38n1suplp243Keywords:
Structural chromosomal mutations, psychomotor development retardation and syndrome of the 10q chromosomeAbstract
Structural chromosomal mutations are changes that do not modify the number of chromosomes in the cell, but
they determine the appearance of abnormal chromosomes. The aim of this study is to report the clinical and
cytogenetic history of a patient carrier of a structural mutation with karyotype 46, XY, del (5) (q14 ~ 23), der
(10) (p12p15)? Add (10) (q26) attended by the Genetic Counseling Service of the State University of
Londrina. The patient (ABT) is male, had 1 year and 9 months on the day of the examination, normally born,
full term (38 weeks) with Psychomotor Development Retardation (PDR) and without other complications. At
birth, ABT’s mother was 25 years old and his father was 31 years old. The x-ray, urine analysis, pre- and
postnatal ultrasonography, parasitological, ophthalmologic, gastrointestinal and neurological exams do not
reveal changes. At the time of cytogenetic examination, the patient underwent surgery for the treatment of
esophagogastric reflux and inguinal hernia. Currently, ABT follows up with Pediatrician, Social Worker,
Physiotherapist, Speech Therapist, Neuropediatrician, Nutritionist and Ophthalmologist. These findings,
particularly PDR, were consistent with the rare syndrome of the 10q + chromosome, since only ten cases of
trisomy for the distal segment of the major arm of chromosome 10 (10q +) were described. Excluding the
PDR, other characteristics were not found in the trial. Structural chromosomal syndromes represent an
opportunity to understand clinical phenotypes and become important in gene mapping, especially when
associated with molecular genetic techniques, the next step in diagnostic genetic research. In this way, the
patient follows the treatment of the symptomatology.
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