A novel report of a fertile female with partial Y chromosome gain completing a healthy pregnancy.

We present a female patient with a complex sex chromosomal rearrangement [GRCh38] Xp22.33(10701_981101)x1,Yq11.221q11.23(13948013_26483746)x1 who conceived spontaneously and carried a healthy pregnancy to term. The patient presented with extreme short stature (more than 4SD below expected) and a bilateral Madelung deformity suggesting a possible SHOX deletion. The patient was otherwise medically well. This patient's short stature was found to be a result of a complex chromosome rearrangement involving a partial X chromosome deletion, which included the SHOX gene and a gain of Y chromosomal material. The Y chromosome material did not contain the SRY gene locus. This is the first recorded case to date of this rearrangement in a female who spontaneously conceived which resulted in a live birth. This patient had normal external and internal anatomy and normal endocrine evaluation with normal puberty. X-inactivation studies revealed no evidence of skewed inactivation.

The cost of rejection: an internal audit of the clinical genetics service active triage pathway at CHI Crumlin, Ireland.

BACKGROUND: Clinical genetics is an under-resourced service in the Republic of Ireland. There can be a number of avenues that lead to barriers in patient triage noted within the department. AIMS: To evaluate the reasons for referral rejection in the triage pathway. To identify the time and cost implications. METHODS: A retrospective analysis of rejected referrals consecutively triaged by one consultant was undertaken over an 18-month period. Calculation of costs used data from a previous study. RESULTS: The consultant rejected 128/1581 (8.3%) of referrals. The rejection reasons included the following: 75% had not included the family/patient genetic report, 10% were conditions not accepted by our service, 8% redirected to other specialities, 3% given written advice in lieu of appointment and 4% for other reasons. Follow-up information was requested on 78% of rejected referrals. For 57% this was received; in 43% no response was received, and these cases remain closed. Median response time was 33 days. Of those who sent back appropriate information, 39% remain on waiting list, 50% attended OPD or were given appropriate advice, 5% did not attend and 4% had alternative follow-up pathways. The estimated time cost of rejected referrals equated to 88.5 h (59 h/year). Using this as our cost of rejection letter, it equated €11,878.4/year departmental cost. CONCLUSION: The majority of referrals are rejected for non-enclosure of patient genetic reports. Many referrals would have accepted to the waiting list if the appropriate report had been attached. This means patients at risk of genetic disorders are not accessing clinical services because the referrer is not providing the necessary information to allow triage. Active management of the waiting list via upfront letters is costly, with a 57% response rate. Should similar rejection rates exist in other specialities, we estimate this would equate to a cost of €2,714,214.40/year to the HSE.

Fifteen-minute consultation: A guide to the paediatric primary survey.

It's 21:00 and you receive a stand-by call from the local ambulance service. Peter, a 9-year-old boy, was riding an electric scooter and has collided with a car. He has reduced consciousness, signs of shock and is hypoxic. How will you prepare your team? What are the possible injuries? Who will perform the primary survey? Injury is the leading cause of morbidity and mortality in the paediatric population accounting for approximately half of all attendances to paediatric emergency departments in the UK and Ireland. Major trauma can be distressing for patients, parents and physicians. Managing major trauma is challenging and it is vital to have a clear and organised approach. In this 15-minute guide we describe a structured approach to the primary survey that includes how to prepare before the child's arrival, the suggested roles of team members and the key components of the primary survey. We discuss life-threatening injuries, the life-saving bundle and the principles of resuscitation, and the role of imaging in the initial assessment of the injured child.

Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype.

De novo truncating and splicing pathogenic variants in the Additional Sex Combs-Like 3 (ASXL3) gene are known to cause neurodevelopmental delay, intellectual disability, behavioral difficulties, hypotonia, feeding problems and characteristic facial features. We previously reported 45 patients with ASXL3-related disorder including three individuals with a familial variant. Here we report the detailed clinical and molecular characteristics of these three families with inherited ASXL3-related disorder. First, a father and son with c.2791_2792del p.Gln931fs pathogenic variant. The second, a mother, daughter and son with c.4534C > T, p.Gln1512Ter pathogenic variant. The third, a mother and her daughter with c.4441dup, p.Leu1481fs maternally inherited pathogenic variant. This report demonstrates intrafamilial phenotypic heterogeneity and confirms heritability of ASXL3-related disorder.