Two cases of deletion 5p syndrome: One with paternal involvement and - PDF document

See discussions, stats, and author profiles for this publication at: https://www.researchgate.net/publication/5433198 Two cases of deletion 5p syndrome: One with paternal involvement and another with atypical presentation Article in Singapore medical journal · May 2008 Source: PubMed CITATIONS READS 2 149 4 authors , including: Bakeel Azman Bin Alwi Zilfalil Sana'a University Universiti Sains Malaysia, Kelantan 5 PUBLICATIONS 52 CITATIONS 97 PUBLICATIONS 1,039 CITATIONS SEE PROFILE SEE PROFILE Ravindran Ankathil Universiti Science Malaysia, Kubang kerian, Kelantan, Malaysia 263 PUBLICATIONS 1,578 CITATIONS SEE PROFILE Some of the authors of this publication are also working on these related projects: Rhetorical annotation for Arabic View project Conspectus on Nanotechnology in Oral Cancer Diagnosis and Treatment View project All content following this page was uploaded by Ravindran Ankathil on 22 May 2014. The user has requested enhancement of the downloaded file.

C a s e R e p o r t Singapore Med J 2008; 49(4) : e98 Two cases of deletion 5p syndrome: one with paternal involvement and another with atypical presentation Azman B Z, Akhir S M, Zilfalil B A, Ankathil R ABSTRACT INTRODUCTION We report two cases of deletion 5p or cri du chat Deletion 5p syndrome (cri du chat syndrome [CdCS]) is syndrome (CdCS) with different presentations considered the commonest autosomal deletion syndrome and risks of transmission: one case with paternal resulting from variable hemizygous deletions in the short chromosome 5 involvement and another, a de arm of human chromosome 5 (5p). It has a prevalence of one in 15,000 to one in 50,000 live births. (1,2) The novo case with atypical clinical presentation. Cytogenetic analysis was performed on the two characteristic cat-like cry is a diagnostic feature of CdCS, apart from other clinical features. (2) About 85% of the cases and their parents. GTG-banded karyotype 5p deletions are de novo , whereas 10%–15% of CdCS analysis of Cases 1 and 2 revealed abnormal cases are familial, with the overwhelming majority due 46,XY,del(5)(p13-15) male karyotypes. For to parental translocations. We report two cases from Case 1, the mother showed normal female Malaysia—one familial case with paternal chromosome 5 karyotype while the father showed an abnormal involvement, and the other, a de novo case with an unusual karyotype involving a balanced translocation 46, presentation. XY, t (5;10)(p13;p15). For Case 2, however, both parents showed a normal karyotype pattern. In CASE REPORTS Case 1, the clinical features, particularly the Case 1 distinct facial phenotype in combination with a A Malay boy presented to the Hospital Universiti Sains characteristic cat-like cry and hypotonia, aided in Malaysia (HUSM) with multiple syndromic features the diagnosis at birth and the karyotype analysis associated with peripheral cyanosis at day two of life. was resolutive. The boy in Case 2 presented with Human Genome He was born full-term, with a birth weight of 2.5 kg and atypical clinical features. Even though this patient Centre, suffered birth asphyxia due to prolonged labour. The School of Medical had multiple syndromic features, the typical high Sciences, proband is the fjrst child of a non-consanguineous second Universiti Sains pitched cat-like cry was not prominent. Instead, Malaysia, marriage of apparently healthy Malay parents (father the patient manifested persistent stridor (from Kubang Kerian, 40 years, mother 29 years of age). Their children from Kota Bharu 16150, day three of life), which might have prevented Malaysia previous marriages were all in good health. The cat-like the clinician from suspecting CdCS at birth. cry was prominent, including the other syndromic features Azman BZ, MD However, when this patient was presented at Medical Offjcer and such as microcephaly, micrognathia, fmattening of occiput, Trainee Lecturer seven months of age for cytogenetic analysis, a long philtrum, high-arched palate, hypertelorism, low Akhir SM, Diploma confirmatory diagnosis of CdCS was established. set ears, rocker-bottom feet, small contracted pelvis, Laboratory For children with congenital abnormalities, Technologist transverse palmar crease, short-webbed neck and widely- an early clinical diagnosis confirmed through Zilfalil BA, MBBS, spaced nipples. We followed-up with this patient at 13 MSc, MMed cytogenetic and molecular investigations, is months of age, and noted a gross development delay Director important for providing personalised diagnostic (weight 5.2 kg, height 66.3 cm and head circumference Ankathil R, PhD and prognostic evaluation, and also for genetic 38.7 cm). He could neither walk nor stand up, and was Consultant Cytogeneticist and counselling on the reproductive risk, particularly incapable of speech. Professor for patients with parental chromosome Correspondence to: translocation involvement. Case 2 Prof Ravindran Ankathil A full-term Malay boy, born as a fjrst child of non- Tel: (60) 9 7663 000 Keywords: cri du chat syndrome, deletion ext 4728 consanguineous parents, with a birth weight of 2.8 kg Fax: (60) 9 765 8914 5p syndrome, paternal chromosome 5 and a good Apgar score, was admitted to HUSM for Email: aravi@ kb.usm.my; involvement persistent stridor at day 27 of life and was treated as rankathil@hotmail. laryngomalacia. There was no prominent dysmorphic com Singapore Med J 2008; 49(4): e98-e100