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A case of ring chromosome 2 with growth retardation, mild dysmorphism, and microdeletion of 2p detected using FISH
  1. Sarah L Deea,
  2. Andrew T Clarkb,
  3. Lionel R Willatta,
  4. John R W Yatesc
  1. aDepartment of Cytogenetics, Box 108, Addenbrooke's NHS Trust, Hills Road, Cambridge CB2 2QQ, UK, bDepartment of Paediatrics, Peterborough District Hospital, Peterborough, UK, cDepartment of Medical Genetics, Addenbrooke's Hospital, Cambridge, UK
  1. Mrs Dee,sarah.dee{at}addenbrookes.nhs.uk

https://doi.org/10.1136/jmg.38.9.e32

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    Editor—Ring chromosomes 2 are rare. We are aware of nine previously reported cases.1-7 We report the clinical and cytogenetic aspects of a further case of ring 2 in a newborn female with severe intrauterine growth retardation (IUGR), microcephaly, heart malformation, and minor dysmorphic features.

    Case report

    The subject was born to a 22 year old mother and 30 year old father with no relevant medical history. The mother had two previous miscarriages at 10 and 12 weeks. Her antenatal ultrasound scans in this pregnancy were noted to be abnormal (ventriculomegaly, a two vessel cord, and IUGR). At 34 weeks a repeat ultrasound scan showed reduced liquor volume with no fetal breathing movements. An amniocyte culture was attempted but was unsuccessful. The patient was born by lower segment caesarean section at 35 weeks' gestation. Her birth weight was 1469 g and her head circumference was 29 cm (both below the 3rd centile). She was noted to be dysmorphic and showed severe IUGR. She required ventilation for respiratory distress syndrome.

    The dysmorphic features include microcephaly, hypertelorism, a wide, flat nasal bridge, bilateral epicanthic folds, narrow and upward slanting palpebral fissures, arched eyebrows, a long philtrum with a thin upper lip, a short neck, right hemihypertrophy, and positional talipes (fig 1). Audiological and ophthalmological assessments have been normal to date.

    Figure 1

    Clinical photograph of the patient.

    In addition, she has nine café au lait patches on her skin, a bifid thumb on her left hand, and a high pitched cry. She had multiple muscular ventriculoseptal defects, which were treated conservatively, and at her most recent review had nearly closed.

    On follow up until 10 months of age, she has been grossly growth retarded despite an adequate nutrition. Her weight and length are well below the 3rd centile and her head circumference is 4 …

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