Constitutional telomeric association (Y;7) in a patient with a female phenotype

Gynandromorphs, i.e., individuals with a mix of male and female traits, are common in the wild bees of the genus Megachile (Hymenoptera, Apoidea). We described new transverse gynandromorphs in Megachile pilidens Alfkeen, 1924 and analyze the spatial distribution of body parts with male vs. female phenotype hitherto recorded in the transverse gynandromorphs of the genus Megachile. We identified 10 different arrangements, nine of which are minor variants of a very general pattern, with a combination of male and female traits largely shared by the gynandromorphs recorded in 20 out of 21 Megachile species in our dataset. Based on the recurrence of the same gynandromorph pattern, the current knowledge on sex determination and sex differentiation in the honey bee, and the results of recent gene-knockdown experiments in these insects, we suggest that these composite phenotypes are possibly epigenetic, rather than genetic, mosaics, with individual body parts of either male or female phenotype according to the locally expressed product of the alternative splicing of sex-determining gene transcripts.

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Persisting demibivalents: a unique meiotic behaviour in Cuscuta babylonica Choisy

Genome ◽

10.1139/g87-010 ◽

1987 ◽

Vol 29 (1) ◽

pp. 63-66 ◽

Cited By ~ 14

Author(s):

Batia Pazy ◽

Uzi Plitmann

Keyword(s):

Key Words ◽

Chromosome Segregation ◽

Meiotic Behaviour ◽

Chromosome Behaviour ◽

Chromosome Movement ◽

Pollen Mother Cells ◽

Key Words Meiosis ◽

Mother Cells ◽

Telomeric Association

Idiosyncratic chromosome behaviour during meiosis was found in pollen mother cells of Cuscuta babylonica Choisy, a thread-like holoparasitic herb. Its main features are among the following: (i) telomeric association between homologues through most stages of the process, which leads to persisting chromatid bivalents (= "demibivalents"); (ii) uncommon chromosome segregation in first and second anaphase; and (iii) prolonged intensified heterochromatinization. Although "regular" in its own way, this process leads to the formation of unviable products. Its further investigation might contribute to our understanding of the role of the spindle and chromosome movement in the ordinary process of meiosis. Key words: meiosis (abnormal), persisting demibivalents, Cuscuta babylonica.

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46,XX gonadal absence: a variant of the XX pure gonadal dysgenesis?

Acta Endocrinologica ◽

10.1530/acta.0.0990585 ◽

1982 ◽

Vol 99 (4) ◽

pp. 585-587 ◽

Cited By ~ 4

Author(s):

Martha Medina ◽

Susana Kofman-Alfaro ◽

Gregorio Pérez-Palacios

Keyword(s):

Gonadal Dysgenesis ◽

Female Phenotype

Abstract. Two unrelated 46,XX individuals with female phenotype and sexual infantilism were studied. Endocrine findings showed anoestrogenism and hypergonadotrophism with a normal pituitary response to LRH. Laparotomy disclosed ovarian absence with normal Mullerian derivatives and no gonadal streaks were found within the true pelvis or inguinal canals. This condition represents the 46,XX counterpart of the 46,XY gonadal absence syndrome. Whether the XX agonadism reported here is a different and distinctive entity or is a variant of the XX pure gonadal dysgenesis syndrome can not be ascertained at present.

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Isochromosome Y [46, X, i(Yq)] and female phenotype

Clinical Genetics ◽

10.1111/j.1399-0004.1973.tb01168.x ◽

2008 ◽

Vol 4 (5) ◽

pp. 410-414 ◽

Cited By ~ 14

Author(s):

J. A. Böök ◽

Batia Eilon ◽

I. Halbrecht ◽

Luise Komlos ◽

Fiorella Shabtay

Keyword(s):

Female Phenotype

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Exploring the female autism phenotype of repetitive behaviours and restricted interests (RBRIs): a systematic PRISMA review

Advances in Autism ◽

10.1108/aia-09-2018-0030 ◽

2019 ◽

Vol 5 (3) ◽

pp. 171-186

Author(s):

Clare Allely

Keyword(s):

Autism Spectrum ◽

Future Research ◽

Repetitive Behaviours ◽

Restricted Interests ◽

Content Type ◽

Female Phenotype ◽

Timely Access ◽

Males And Females ◽

Women And Girls ◽

Detrimental Impact

Purpose The purpose of this paper is to address the need for increased understanding, awareness and recognition of the autism female phenotype in terms of repetitive behaviours and restricted interests (RBRIs). Design/methodology/approach A systematic PRISMA review was conducted. The main aim of the present systematic review is to identify studies which have investigated RBRIs in females with autism spectrum disorder (ASD) or the differences in RBRIs between males and females with ASD. Findings In sum, 19 relevant articles were identified: 5 studies found no significant evidence to support the notion of sex differences in RRBIs in ASD; 1 study did not report any differences in RRBIs between males and females with ASD; 12 studies found evidence that males with ASD had significantly more RRBIs compared to females with ASD; and, lastly, 1 study found that girls with ASD have features of RRBIs which are exhibited more compared to boys with ASD. Research limitations/implications There is a real lack of in-depth knowledge and understanding of the female phenotype of ASD, and such lack of knowledge has a detrimental impact on the identification of autistic females and a lack of identification can have negative consequence. This is important to address in future research as it is well established that the earlier the diagnosis, the better the outcomes, due to the timely access to appropriate interventions. Practical implications The RBRIs exhibited in autistic females are not sufficiently captured by most currently diagnostic instruments. Clinicians are less likely to identify the RBRIs in females as they tend not to be the typical repetitive behaviours commonly associated with ASD. It has been recommended that clinicians consider “females as a whole” in terms of their clinical presentation and look for any indication of RBRIs, even repetitive interests which appear clinically innocuous. Originality/value There is relatively little research investigating RBRIs in autistic women and girls. There is a real need to highlight the importance of understanding and recognising how RBRIs can differ between males and females with ASD.

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